Canonical Allele Identifier: CA1080271819

Gene:

Linked Data

• dbSNP Id: rs1780062117
• gnomAD v3: 5-113660894-G-A
• gnomAD v4: 5-113660894-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113660894G>A , CM000667.2:g.113660894G>A	GRCh38
NC_000005.9:g.112996591G>A , CM000667.1:g.112996591G>A	GRCh37
NC_000005.8:g.113024490G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27530G>A