Canonical Allele Identifier: CA375686357
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256289G>T , CM000671.2:g.133256289G>T GRCh38
NC_000009.11:g.136131676G>T , CM000671.1:g.136131676G>T GRCh37
NC_000009.10:g.135121497G>T NCBI36
NG_006669.1:g.21379C>A
NG_006669.2:g.23927C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.471C>A
ENST00000647353.1:n.54-5137C>A
ENST00000651471.1:n.397C>A
ENST00000679909.1:c.28+18873C>A ENSP00000506089.1:n.28+18873C>A
ENST00000453660.3:n.453C>A
ENST00000538324.2:c.439C>A ENSP00000483018.1:p.His147Asn
ENST00000611156.4:c.439C>A ENSP00000483265.1:p.His147Asn
NM_020469.2:c.442C>A NP_065202.2:p.His148Asn
NM_020469.3:c.442C>A NP_065202.2:p.His148Asn