Canonical Allele Identifier: CA185510917

Gene:

Linked Data

• dbSNP Id: rs567877823
• gnomAD v3: 8-125478803-G-A
• gnomAD v4: 8-125478803-G-A
• MyVariant Identifiers: chr8:g.126491045G>A (hg19) ; chr8:g.125478803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478803G>A , CM000670.2:g.125478803G>A	GRCh38
NC_000008.10:g.126491045G>A , CM000670.1:g.126491045G>A	GRCh37
NC_000008.9:g.126560227G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5489G>A