ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686626
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136132844A>G (hg19)
chr9:g.133257457A>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257457A>G , CM000671.2:g.133257457A>G
GRCh38
NC_000009.11:g.136132844A>G , CM000671.1:g.136132844A>G
GRCh37
NC_000009.10:g.135122665A>G
NCBI36
NG_006669.1:g.20211T>C
NG_006669.2:g.22759T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.355T>C
ENST00000647353.1:n.54-6305T>C
ENST00000651471.1:n.329+585T>C
ENST00000679909.1:c.28+17705T>C
ENSP00000506089.1:n.28+17705T>C
ENST00000453660.3:n.337T>C
ENST00000538324.2:c.323T>C
ENSP00000483018.1:p.Phe108Ser
ENST00000611156.4:c.323T>C
ENSP00000483265.1:p.Phe108Ser
NM_020469.2:c.326T>C
NP_065202.2:p.Phe109Ser
NM_020469.3:c.326T>C
NP_065202.2:p.Phe109Ser
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