Canonical Allele Identifier: CA375686777
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257529G>A , CM000671.2:g.133257529G>A GRCh38
NC_000009.11:g.136132916G>A , CM000671.1:g.136132916G>A GRCh37
NC_000009.10:g.135122737G>A NCBI36
NG_006669.1:g.20138C>T
NG_006669.2:g.22686C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.283C>T
ENST00000647353.1:n.54-6377C>T
ENST00000651471.1:n.329+513C>T
ENST00000679909.1:c.28+17633C>T ENSP00000506089.1:n.28+17633C>T
ENST00000453660.3:n.265C>T
ENST00000538324.2:c.253C>T ENSP00000483018.1:p.Leu85Phe
ENST00000611156.4:c.253C>T ENSP00000483265.1:p.Leu85Phe
NM_020469.2:c.253C>T NP_065202.2:p.Leu85Phe
NM_020469.3:c.253C>T NP_065202.2:p.Leu85Phe