Canonical Allele Identifier: CA375684508
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255850T>G , CM000671.2:g.133255850T>G GRCh38
NC_000009.11:g.136131237T>G , CM000671.1:g.136131237T>G GRCh37
NC_000009.10:g.135121058T>G NCBI36
NG_006669.1:g.21818A>C
NG_006669.2:g.24366A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.910A>C
ENST00000647353.1:n.54-4698A>C
ENST00000679909.1:c.28+19312A>C ENSP00000506089.1:n.28+19312A>C
ENST00000453660.3:n.892A>C
ENST00000538324.2:c.878A>C ENSP00000483018.1:p.Asn293Thr
ENST00000611156.4:c.878A>C ENSP00000483265.1:p.Asn293Thr
NM_020469.2:c.881A>C NP_065202.2:p.Asn294Thr
NM_020469.3:c.881A>C NP_065202.2:p.Asn294Thr