Canonical Allele Identifier: CA375686590
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257442G>T , CM000671.2:g.133257442G>T GRCh38
NC_000009.11:g.136132829G>T , CM000671.1:g.136132829G>T GRCh37
NC_000009.10:g.135122650G>T NCBI36
NG_006669.1:g.20226C>A
NG_006669.2:g.22774C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.370C>A
ENST00000647353.1:n.54-6290C>A
ENST00000651471.1:n.329+600C>A
ENST00000679909.1:c.28+17720C>A ENSP00000506089.1:n.28+17720C>A
ENST00000453660.3:n.352C>A
ENST00000538324.2:c.338C>A ENSP00000483018.1:p.Thr113Asn
ENST00000611156.4:c.338C>A ENSP00000483265.1:p.Thr113Asn
NM_020469.2:c.341C>A NP_065202.2:p.Thr114Asn
NM_020469.3:c.341C>A NP_065202.2:p.Thr114Asn