Canonical Allele Identifier: CA375686146

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131570T>G (hg19) ; chr9:g.133256183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256183T>G , CM000671.2:g.133256183T>G	GRCh38
NC_000009.11:g.136131570T>G , CM000671.1:g.136131570T>G	GRCh37
NC_000009.10:g.135121391T>G	NCBI36
NG_006669.1:g.21485A>C
NG_006669.2:g.24033A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.577A>C
ENST00000647353.1:n.54-5031A>C
ENST00000651471.1:n.503A>C
ENST00000679909.1:c.28+18979A>C	ENSP00000506089.1:n.28+18979A>C
ENST00000453660.3:n.559A>C
ENST00000538324.2:c.545A>C	ENSP00000483018.1:p.Asp182Ala
ENST00000611156.4:c.545A>C	ENSP00000483265.1:p.Asp182Ala
NM_020469.2:c.548A>C	NP_065202.2:p.Asp183Ala
NM_020469.3:c.548A>C	NP_065202.2:p.Asp183Ala