Canonical Allele Identifier: CA125569101

Gene:

Linked Data

• dbSNP Id: rs113849610
• gnomAD v2: 5-112996838-A-C
• gnomAD v3: 5-113661141-A-C
• gnomAD v4: 5-113661141-A-C
• MyVariant Identifiers: chr5:g.112996838A>C (hg19) ; chr5:g.113661141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113661141A>C , CM000667.2:g.113661141A>C	GRCh38
NC_000005.9:g.112996838A>C , CM000667.1:g.112996838A>C	GRCh37
NC_000005.8:g.113024737A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27777A>C