ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686582
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136132824T>A (hg19)
chr9:g.133257437T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257437T>A , CM000671.2:g.133257437T>A
GRCh38
NC_000009.11:g.136132824T>A , CM000671.1:g.136132824T>A
GRCh37
NC_000009.10:g.135122645T>A
NCBI36
NG_006669.1:g.20231A>T
NG_006669.2:g.22779A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.375A>T
ENST00000647353.1:n.54-6285A>T
ENST00000651471.1:n.329+605A>T
ENST00000679909.1:c.28+17725A>T
ENSP00000506089.1:n.28+17725A>T
ENST00000453660.3:n.357A>T
ENST00000538324.2:c.343A>T
ENSP00000483018.1:p.Ile115Phe
ENST00000611156.4:c.343A>T
ENSP00000483265.1:p.Ile115Phe
NM_020469.2:c.346A>T
NP_065202.2:p.Ile116Phe
NM_020469.3:c.346A>T
NP_065202.2:p.Ile116Phe
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