Canonical Allele Identifier: CA375685286

Gene: ABO

Linked Data

• gnomAD v4: 9-133255985-C-A
• MyVariant Identifiers: chr9:g.136131372C>A (hg19) ; chr9:g.133255985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255985C>A , CM000671.2:g.133255985C>A	GRCh38
NC_000009.11:g.136131372C>A , CM000671.1:g.136131372C>A	GRCh37
NC_000009.10:g.135121193C>A	NCBI36
NG_006669.1:g.21683G>T
NG_006669.2:g.24231G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.775G>T
ENST00000647353.1:n.54-4833G>T
ENST00000679909.1:c.28+19177G>T	ENSP00000506089.1:n.28+19177G>T
ENST00000453660.3:n.757G>T
ENST00000538324.2:c.743G>T	ENSP00000483018.1:p.Arg248Leu
ENST00000611156.4:c.743G>T	ENSP00000483265.1:p.Arg248Leu
NM_020469.2:c.746G>T	NP_065202.2:p.Arg249Leu
NM_020469.3:c.746G>T	NP_065202.2:p.Arg249Leu