Canonical Allele Identifier: CA375684348
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255830G>T , CM000671.2:g.133255830G>T GRCh38
NC_000009.11:g.136131217G>T , CM000671.1:g.136131217G>T GRCh37
NC_000009.10:g.135121038G>T NCBI36
NG_006669.1:g.21838C>A
NG_006669.2:g.24386C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.930C>A
ENST00000647353.1:n.54-4678C>A
ENST00000679909.1:c.28+19332C>A ENSP00000506089.1:n.28+19332C>A
ENST00000453660.3:n.912C>A
ENST00000538324.2:c.898C>A ENSP00000483018.1:p.His300Asn
ENST00000611156.4:c.898C>A ENSP00000483265.1:p.His300Asn
NM_020469.2:c.901C>A NP_065202.2:p.His301Asn
NM_020469.3:c.901C>A NP_065202.2:p.His301Asn