Canonical Allele Identifier: CA375686261
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256243G>T , CM000671.2:g.133256243G>T GRCh38
NC_000009.11:g.136131630G>T , CM000671.1:g.136131630G>T GRCh37
NC_000009.10:g.135121451G>T NCBI36
NG_006669.1:g.21425C>A
NG_006669.2:g.23973C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.517C>A
ENST00000647353.1:n.54-5091C>A
ENST00000651471.1:n.443C>A
ENST00000679909.1:c.28+18919C>A ENSP00000506089.1:n.28+18919C>A
ENST00000453660.3:n.499C>A
ENST00000538324.2:c.485C>A ENSP00000483018.1:p.Thr162Lys
ENST00000611156.4:c.485C>A ENSP00000483265.1:p.Thr162Lys
NM_020469.2:c.488C>A NP_065202.2:p.Thr163Lys
NM_020469.3:c.488C>A NP_065202.2:p.Thr163Lys