Canonical Allele Identifier: CA375686347
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256285T>G , CM000671.2:g.133256285T>G GRCh38
NC_000009.11:g.136131672T>G , CM000671.1:g.136131672T>G GRCh37
NC_000009.10:g.135121493T>G NCBI36
NG_006669.1:g.21383A>C
NG_006669.2:g.23931A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.475A>C
ENST00000647353.1:n.54-5133A>C
ENST00000651471.1:n.401A>C
ENST00000679909.1:c.28+18877A>C ENSP00000506089.1:n.28+18877A>C
ENST00000453660.3:n.457A>C
ENST00000538324.2:c.443A>C ENSP00000483018.1:p.Tyr148Ser
ENST00000611156.4:c.443A>C ENSP00000483265.1:p.Tyr148Ser
NM_020469.2:c.446A>C NP_065202.2:p.Tyr149Ser
NM_020469.3:c.446A>C NP_065202.2:p.Tyr149Ser