Canonical Allele Identifier: CA591309061

Gene: ABO

Linked Data

• dbSNP Id: rs944848194
• gnomAD v2: 9-136132936-A-G
• gnomAD v4: 9-133257549-A-G
• MyVariant Identifiers: chr9:g.136132936A>G (hg19) ; chr9:g.133257549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257549A>G , CM000671.2:g.133257549A>G	GRCh38
NC_000009.11:g.136132936A>G , CM000671.1:g.136132936A>G	GRCh37
NC_000009.10:g.135122757A>G	NCBI36
NG_006669.1:g.20118T>C
NG_006669.2:g.22666T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.270-7T>C
ENST00000647353.1:n.54-6397T>C
ENST00000651471.1:n.329+493T>C
ENST00000679909.1:c.28+17613T>C	ENSP00000506089.1:n.28+17613T>C
ENST00000453660.3:n.252-7T>C
ENST00000538324.2:c.240-7T>C	ENSP00000483018.1:n.240-7T>C
ENST00000611156.4:c.240-7T>C	ENSP00000483265.1:n.240-7T>C
NM_020469.2:c.240-7T>C	NP_065202.2:n.240-7T>C
NM_020469.3:c.240-7T>C	NP_065202.2:n.240-7T>C