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Have Name Checker convert "chr1" to proper NCBI Gene ID #55

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cathtyner opened this issue Dec 28, 2021 · 1 comment
Closed

Have Name Checker convert "chr1" to proper NCBI Gene ID #55

cathtyner opened this issue Dec 28, 2021 · 1 comment

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@cathtyner
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Suggestion/Improvement
When entering something like, "chr1:g.169519049C>T" into Name Checker,
It would be helpful for MUT to return, or go ahead and convert, "chr1" to NC_000001.10

@jfjlaros
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The problem is that "chr1" is ambiguous, it could refer to chromosome 1 of any patch of any build of any species. E.g., human build GRCh38.p13 or mouse build GRCm39.p0, etc. So perhaps something along the lines of GRCh38.p13:chr1:169519049C>T` could work.

You might want to discuss this with the HGVS nomenclature committee instead.

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