Canonical Allele Identifier: CA375684399
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255838G>T , CM000671.2:g.133255838G>T GRCh38
NC_000009.11:g.136131225G>T , CM000671.1:g.136131225G>T GRCh37
NC_000009.10:g.135121046G>T NCBI36
NG_006669.1:g.21830C>A
NG_006669.2:g.24378C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.922C>A
ENST00000647353.1:n.54-4686C>A
ENST00000679909.1:c.28+19324C>A ENSP00000506089.1:n.28+19324C>A
ENST00000453660.3:n.904C>A
ENST00000538324.2:c.890C>A ENSP00000483018.1:p.Ala297Asp
ENST00000611156.4:c.890C>A ENSP00000483265.1:p.Ala297Asp
NM_020469.2:c.893C>A NP_065202.2:p.Ala298Asp
NM_020469.3:c.893C>A NP_065202.2:p.Ala298Asp