Canonical Allele Identifier: CA375684235
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255820C>G , CM000671.2:g.133255820C>G GRCh38
NC_000009.11:g.136131207C>G , CM000671.1:g.136131207C>G GRCh37
NC_000009.10:g.135121028C>G NCBI36
NG_006669.1:g.21848G>C
NG_006669.2:g.24396G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.940G>C
ENST00000647353.1:n.54-4668G>C
ENST00000679909.1:c.28+19342G>C ENSP00000506089.1:n.28+19342G>C
ENST00000453660.3:n.922G>C
ENST00000538324.2:c.908G>C ENSP00000483018.1:p.Ser303Thr
ENST00000611156.4:c.908G>C ENSP00000483265.1:p.Ser303Thr
NM_020469.2:c.911G>C NP_065202.2:p.Ser304Thr
NM_020469.3:c.911G>C NP_065202.2:p.Ser304Thr