Canonical Allele Identifier: CA375686423
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256318T>A , CM000671.2:g.133256318T>A GRCh38
NC_000009.11:g.136131705T>A , CM000671.1:g.136131705T>A GRCh37
NC_000009.10:g.135121526T>A NCBI36
NG_006669.1:g.21350A>T
NG_006669.2:g.23898A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.442A>T
ENST00000647353.1:n.54-5166A>T
ENST00000651471.1:n.368A>T
ENST00000679909.1:c.28+18844A>T ENSP00000506089.1:n.28+18844A>T
ENST00000453660.3:n.424A>T
ENST00000538324.2:c.410A>T ENSP00000483018.1:p.Glu137Val
ENST00000611156.4:c.410A>T ENSP00000483265.1:p.Glu137Val
NM_020469.2:c.413A>T NP_065202.2:p.Glu138Val
NM_020469.3:c.413A>T NP_065202.2:p.Glu138Val