Canonical Allele Identifier: CA375686425
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.442A>C
ENST00000647353.1:n.54-5166A>C
ENST00000651471.1:n.368A>C
ENST00000679909.1:c.28+18844A>C ENSP00000506089.1:n.28+18844A>C
ENST00000453660.3:n.424A>C
ENST00000538324.2:c.410A>C ENSP00000483018.1:p.Glu137Ala
ENST00000611156.4:c.410A>C ENSP00000483265.1:p.Glu137Ala
NM_020469.2:c.413A>C NP_065202.2:p.Glu138Ala
NM_020469.3:c.413A>C NP_065202.2:p.Glu138Ala