Canonical Allele Identifier: CA375686647
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257466T>G , CM000671.2:g.133257466T>G GRCh38
NC_000009.11:g.136132853T>G , CM000671.1:g.136132853T>G GRCh37
NC_000009.10:g.135122674T>G NCBI36
NG_006669.1:g.20202A>C
NG_006669.2:g.22750A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.346A>C
ENST00000647353.1:n.54-6314A>C
ENST00000651471.1:n.329+576A>C
ENST00000679909.1:c.28+17696A>C ENSP00000506089.1:n.28+17696A>C
ENST00000453660.3:n.328A>C
ENST00000538324.2:c.314A>C ENSP00000483018.1:p.Asn105Thr
ENST00000611156.4:c.314A>C ENSP00000483265.1:p.Asn105Thr
NM_020469.2:c.317A>C NP_065202.2:p.Asn106Thr
NM_020469.3:c.317A>C NP_065202.2:p.Asn106Thr