Canonical Allele Identifier: CA802120379

Gene:

Linked Data

• dbSNP Id: rs1345112140
• gnomAD v3: 5-113660947-G-A
• gnomAD v4: 5-113660947-G-A
• MyVariant Identifiers: chr5:g.112996644G>A (hg19) ; chr5:g.113660947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113660947G>A , CM000667.2:g.113660947G>A	GRCh38
NC_000005.9:g.112996644G>A , CM000667.1:g.112996644G>A	GRCh37
NC_000005.8:g.113024543G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27583G>A