Canonical Allele Identifier: CA375686072

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131537T>G (hg19) ; chr9:g.133256150T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256150T>G , CM000671.2:g.133256150T>G	GRCh38
NC_000009.11:g.136131537T>G , CM000671.1:g.136131537T>G	GRCh37
NC_000009.10:g.135121358T>G	NCBI36
NG_006669.1:g.21518A>C
NG_006669.2:g.24066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.610A>C
ENST00000647353.1:n.54-4998A>C
ENST00000651471.1:n.536A>C
ENST00000679909.1:c.28+19012A>C	ENSP00000506089.1:n.28+19012A>C
ENST00000453660.3:n.592A>C
ENST00000538324.2:c.578A>C	ENSP00000483018.1:p.Asp193Ala
ENST00000611156.4:c.578A>C	ENSP00000483265.1:p.Asp193Ala
NM_020469.2:c.581A>C	NP_065202.2:p.Asp194Ala
NM_020469.3:c.581A>C	NP_065202.2:p.Asp194Ala