Canonical Allele Identifier: CA375684872
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255897C>G , CM000671.2:g.133255897C>G GRCh38
NC_000009.11:g.136131284C>G , CM000671.1:g.136131284C>G GRCh37
NC_000009.10:g.135121105C>G NCBI36
NG_006669.1:g.21771G>C
NG_006669.2:g.24319G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.863G>C
ENST00000647353.1:n.54-4745G>C
ENST00000679909.1:c.28+19265G>C ENSP00000506089.1:n.28+19265G>C
ENST00000453660.3:n.845G>C
ENST00000538324.2:c.831G>C ENSP00000483018.1:p.Gln277His
ENST00000611156.4:c.831G>C ENSP00000483265.1:p.Gln277His
NM_020469.2:c.834G>C NP_065202.2:p.Gln278His
NM_020469.3:c.834G>C NP_065202.2:p.Gln278His