Canonical Allele Identifier: CA375686353
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256288T>G , CM000671.2:g.133256288T>G GRCh38
NC_000009.11:g.136131675T>G , CM000671.1:g.136131675T>G GRCh37
NC_000009.10:g.135121496T>G NCBI36
NG_006669.1:g.21380A>C
NG_006669.2:g.23928A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.472A>C
ENST00000647353.1:n.54-5136A>C
ENST00000651471.1:n.398A>C
ENST00000679909.1:c.28+18874A>C ENSP00000506089.1:n.28+18874A>C
ENST00000453660.3:n.454A>C
ENST00000538324.2:c.440A>C ENSP00000483018.1:p.His147Pro
ENST00000611156.4:c.440A>C ENSP00000483265.1:p.His147Pro
NM_020469.2:c.443A>C NP_065202.2:p.His148Pro
NM_020469.3:c.443A>C NP_065202.2:p.His148Pro