Canonical Allele Identifier: CA375685250

Gene: ABO

Linked Data

• gnomAD v4: 9-133255968-A-G
• MyVariant Identifiers: chr9:g.136131355A>G (hg19) ; chr9:g.133255968A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255968A>G , CM000671.2:g.133255968A>G	GRCh38
NC_000009.11:g.136131355A>G , CM000671.1:g.136131355A>G	GRCh37
NC_000009.10:g.135121176A>G	NCBI36
NG_006669.1:g.21700T>C
NG_006669.2:g.24248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.792T>C
ENST00000647353.1:n.54-4816T>C
ENST00000679909.1:c.28+19194T>C	ENSP00000506089.1:n.28+19194T>C
ENST00000453660.3:n.774T>C
ENST00000538324.2:c.760T>C	ENSP00000483018.1:p.Tyr254His
ENST00000611156.4:c.760T>C	ENSP00000483265.1:p.Tyr254His
NM_020469.2:c.763T>C	NP_065202.2:p.Tyr255His
NM_020469.3:c.763T>C	NP_065202.2:p.Tyr255His