Canonical Allele Identifier: CA649341288
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148748378C>A , CM000666.2:g.148748378C>A GRCh38
NC_000004.11:g.149669530C>A , CM000666.1:g.149669530C>A GRCh37
NC_000004.10:g.149888980C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741441.1:n.1746-118379C>A