Canonical Allele Identifier: CA375685249

Gene: ABO

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.792T>G
ENST00000647353.1:n.54-4816T>G
ENST00000679909.1:c.28+19194T>G	ENSP00000506089.1:n.28+19194T>G
ENST00000453660.3:n.774T>G
ENST00000538324.2:c.760T>G	ENSP00000483018.1:p.Tyr254Asp
ENST00000611156.4:c.760T>G	ENSP00000483265.1:p.Tyr254Asp
NM_020469.2:c.763T>G	NP_065202.2:p.Tyr255Asp
NM_020469.3:c.763T>G	NP_065202.2:p.Tyr255Asp