Canonical Allele Identifier: CA375686547
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257419C>G , CM000671.2:g.133257419C>G GRCh38
NC_000009.11:g.136132806C>G , CM000671.1:g.136132806C>G GRCh37
NC_000009.10:g.135122627C>G NCBI36
NG_006669.1:g.20249G>C
NG_006669.2:g.22797G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.393G>C
ENST00000647353.1:n.54-6267G>C
ENST00000651471.1:n.329+623G>C
ENST00000679909.1:c.28+17743G>C ENSP00000506089.1:n.28+17743G>C
ENST00000453660.3:n.375G>C
ENST00000538324.2:c.361G>C ENSP00000483018.1:p.Ala121Pro
ENST00000611156.4:c.361G>C ENSP00000483265.1:p.Ala121Pro
NM_020469.2:c.364G>C NP_065202.2:p.Ala122Pro
NM_020469.3:c.364G>C NP_065202.2:p.Ala122Pro