Canonical Allele Identifier: CA1741967358
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.127524904A>C , CM000669.2:g.127524904A>C GRCh38
NC_000007.13:g.127164958A>C , CM000669.1:g.127164958A>C GRCh37
NC_000007.12:g.126952194A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927939.1:n.387+10245T>G
XR_001745351.1:n.2291+10245T>G
XR_001745352.1:n.493+10245T>G