ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305733
Gene: ABO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255935G>T , CM000671.2:g.133255935G>T
GRCh38
NC_000009.11:g.136131322G>T , CM000671.1:g.136131322G>T
GRCh37
NC_000009.10:g.135121143G>T
NCBI36
NG_006669.1:g.21733C>A
NG_006669.2:g.24281C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.825C>A
ENST00000647353.1:n.54-4783C>A
ENST00000679909.1:c.28+19227C>A
ENSP00000506089.1:n.28+19227C>A
ENST00000453660.3:n.807C>A
ENST00000538324.2:c.793C>A
ENSP00000483018.1:p.Leu265Met
ENST00000611156.4:c.793C>A
ENSP00000483265.1:p.Leu265Met
NM_020469.2:c.796C>A
NP_065202.2:p.Leu266Met
NM_020469.3:c.796C>A
NP_065202.2:p.Leu266Met
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