Canonical Allele Identifier: CA1882579497
Gene: ABO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255774G= , CM000671.2:g.133255774G= GRCh38
NC_000009.11:g.136131161G= , CM000671.1:g.136131161G= GRCh37
NC_000009.10:g.135120982G= NCBI36
NG_006669.1:g.21894C=
NG_006669.2:g.24442C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.986C=
ENST00000647353.1:n.54-4622C=
ENST00000679909.1:c.28+19388C= ENSP00000506089.1:n.28+19388C=
ENST00000453660.3:n.968C=
ENST00000538324.2:c.954C= ENSP00000483018.1:p.Leu318=
ENST00000611156.4:c.954C= ENSP00000483265.1:p.Leu318=
NM_020469.2:c.957C= NP_065202.2:p.Leu319=
NM_020469.3:c.957C= NP_065202.2:p.Leu319=