Canonical Allele Identifier: CA375683784
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255761A>T , CM000671.2:g.133255761A>T GRCh38
NC_000009.11:g.136131148A>T , CM000671.1:g.136131148A>T GRCh37
NC_000009.10:g.135120969A>T NCBI36
NG_006669.1:g.21907T>A
NG_006669.2:g.24455T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.999T>A
ENST00000647353.1:n.54-4609T>A
ENST00000679909.1:c.28+19401T>A ENSP00000506089.1:n.28+19401T>A
ENST00000453660.3:n.981T>A
ENST00000538324.2:c.967T>A ENSP00000483018.1:p.Leu323Met
ENST00000611156.4:c.967T>A ENSP00000483265.1:p.Leu323Met
NM_020469.2:c.970T>A NP_065202.2:p.Leu324Met
NM_020469.3:c.970T>A NP_065202.2:p.Leu324Met