Canonical Allele Identifier: CA12627340
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.9816841G>A , CM000669.2:g.9816841G>A GRCh38
NC_000007.13:g.9856470G>A , CM000669.1:g.9856470G>A GRCh37
NC_000007.12:g.9822995G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_927024.1:n.209+49949C>T
XR_927025.1:n.323+49949C>T
XR_927026.1:n.209+49949C>T
XR_927026.2:n.209+49949C>T