Canonical Allele Identifier: CA375686748
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257514C>G , CM000671.2:g.133257514C>G GRCh38
NC_000009.11:g.136132901C>G , CM000671.1:g.136132901C>G GRCh37
NC_000009.10:g.135122722C>G NCBI36
NG_006669.1:g.20154G>C
NG_006669.2:g.22702G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.298G>C
ENST00000647353.1:n.54-6362G>C
ENST00000651471.1:n.329+528G>C
ENST00000679909.1:c.28+17648G>C ENSP00000506089.1:n.28+17648G>C
ENST00000453660.3:n.280G>C
ENST00000538324.2:c.266G>C ENSP00000483018.1:p.Trp89Ser
ENST00000611156.4:c.266G>C ENSP00000483265.1:p.Trp89Ser
NM_020469.2:c.269G>C NP_065202.2:p.Trp90Ser
NM_020469.3:c.269G>C NP_065202.2:p.Trp90Ser