Canonical Allele Identifier: CA375686692
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257488T>G , CM000671.2:g.133257488T>G GRCh38
NC_000009.11:g.136132875T>G , CM000671.1:g.136132875T>G GRCh37
NC_000009.10:g.135122696T>G NCBI36
NG_006669.1:g.20180A>C
NG_006669.2:g.22728A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.324A>C
ENST00000647353.1:n.54-6336A>C
ENST00000651471.1:n.329+554A>C
ENST00000679909.1:c.28+17674A>C ENSP00000506089.1:n.28+17674A>C
ENST00000453660.3:n.306A>C
ENST00000538324.2:c.292A>C ENSP00000483018.1:p.Thr98Pro
ENST00000611156.4:c.292A>C ENSP00000483265.1:p.Thr98Pro
NM_020469.2:c.295A>C NP_065202.2:p.Thr99Pro
NM_020469.3:c.295A>C NP_065202.2:p.Thr99Pro