Canonical Allele Identifier: CA125569096

Gene:

Linked Data

• dbSNP Id: rs188344559
• gnomAD v2: 5-112996800-G-T
• gnomAD v3: 5-113661103-G-T
• gnomAD v4: 5-113661103-G-T
• MyVariant Identifiers: chr5:g.112996800G>T (hg19) ; chr5:g.113661103G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113661103G>T , CM000667.2:g.113661103G>T	GRCh38
NC_000005.9:g.112996800G>T , CM000667.1:g.112996800G>T	GRCh37
NC_000005.8:g.113024699G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001742841.1:n.59+27739G>T