Canonical Allele Identifier: CA125569077

Gene:

Linked Data

• dbSNP Id: rs758862570
• gnomAD v3: 5-113660917-C-T
• gnomAD v4: 5-113660917-C-T
• MyVariant Identifiers: chr5:g.112996614C>T (hg19) ; chr5:g.113660917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113660917C>T , CM000667.2:g.113660917C>T	GRCh38
NC_000005.9:g.112996614C>T , CM000667.1:g.112996614C>T	GRCh37
NC_000005.8:g.113024513C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27553C>T