Canonical Allele Identifier: CA375685292
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255990C>G , CM000671.2:g.133255990C>G GRCh38
NC_000009.11:g.136131377C>G , CM000671.1:g.136131377C>G GRCh37
NC_000009.10:g.135121198C>G NCBI36
NG_006669.1:g.21678G>C
NG_006669.2:g.24226G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.770G>C
ENST00000647353.1:n.54-4838G>C
ENST00000679909.1:c.28+19172G>C ENSP00000506089.1:n.28+19172G>C
ENST00000453660.3:n.752G>C
ENST00000538324.2:c.738G>C ENSP00000483018.1:p.Glu246Asp
ENST00000611156.4:c.738G>C ENSP00000483265.1:p.Glu246Asp
NM_020469.2:c.741G>C NP_065202.2:p.Glu247Asp
NM_020469.3:c.741G>C NP_065202.2:p.Glu247Asp