Canonical Allele Identifier: CA802120352

Gene:

Linked Data

• dbSNP Id: rs1250716591
• gnomAD v3: 5-113660923-A-G
• gnomAD v4: 5-113660923-A-G
• MyVariant Identifiers: chr5:g.112996620A>G (hg19) ; chr5:g.113660923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113660923A>G , CM000667.2:g.113660923A>G	GRCh38
NC_000005.9:g.112996620A>G , CM000667.1:g.112996620A>G	GRCh37
NC_000005.8:g.113024519A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27559A>G