Canonical Allele Identifier: CA375686412
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256313G>A , CM000671.2:g.133256313G>A GRCh38
NC_000009.11:g.136131700G>A , CM000671.1:g.136131700G>A GRCh37
NC_000009.10:g.135121521G>A NCBI36
NG_006669.1:g.21355C>T
NG_006669.2:g.23903C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.447C>T
ENST00000647353.1:n.54-5161C>T
ENST00000651471.1:n.373C>T
ENST00000679909.1:c.28+18849C>T ENSP00000506089.1:n.28+18849C>T
ENST00000453660.3:n.429C>T
ENST00000538324.2:c.415C>T ENSP00000483018.1:p.His139Tyr
ENST00000611156.4:c.415C>T ENSP00000483265.1:p.His139Tyr
NM_020469.2:c.418C>T NP_065202.2:p.His140Tyr
NM_020469.3:c.418C>T NP_065202.2:p.His140Tyr