Canonical Allele Identifier: CA375685634
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256055T>A , CM000671.2:g.133256055T>A GRCh38
NC_000009.11:g.136131442T>A , CM000671.1:g.136131442T>A GRCh37
NC_000009.10:g.135121263T>A NCBI36
NG_006669.1:g.21613A>T
NG_006669.2:g.24161A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.705A>T
ENST00000647353.1:n.54-4903A>T
ENST00000679909.1:c.28+19107A>T ENSP00000506089.1:n.28+19107A>T
ENST00000453660.3:n.687A>T
ENST00000538324.2:c.673A>T ENSP00000483018.1:p.Thr225Ser
ENST00000611156.4:c.673A>T ENSP00000483265.1:p.Thr225Ser
NM_020469.2:c.676A>T NP_065202.2:p.Thr226Ser
NM_020469.3:c.676A>T NP_065202.2:p.Thr226Ser