Canonical Allele Identifier: CA375684096
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255803G>T , CM000671.2:g.133255803G>T GRCh38
NC_000009.11:g.136131190G>T , CM000671.1:g.136131190G>T GRCh37
NC_000009.10:g.135121011G>T NCBI36
NG_006669.1:g.21865C>A
NG_006669.2:g.24413C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.957C>A
ENST00000647353.1:n.54-4651C>A
ENST00000679909.1:c.28+19359C>A ENSP00000506089.1:n.28+19359C>A
ENST00000453660.3:n.939C>A
ENST00000538324.2:c.925C>A ENSP00000483018.1:p.Leu309Met
ENST00000611156.4:c.925C>A ENSP00000483265.1:p.Leu309Met
NM_020469.2:c.928C>A NP_065202.2:p.Leu310Met
NM_020469.3:c.928C>A NP_065202.2:p.Leu310Met