Canonical Allele Identifier: CA1118845331

Gene:

Linked Data

• gnomAD v3: 8-125478658-T-A
• gnomAD v4: 8-125478658-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478658T>A , CM000670.2:g.125478658T>A	GRCh38
NC_000008.10:g.126490900T>A , CM000670.1:g.126490900T>A	GRCh37
NC_000008.9:g.126560082T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5344T>A