ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686459
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131723A>C (hg19)
chr9:g.133256336A>C (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256336A>C , CM000671.2:g.133256336A>C
GRCh38
NC_000009.11:g.136131723A>C , CM000671.1:g.136131723A>C
GRCh37
NC_000009.10:g.135121544A>C
NCBI36
NG_006669.1:g.21332T>G
NG_006669.2:g.23880T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.424T>G
ENST00000647353.1:n.54-5184T>G
ENST00000651471.1:n.350T>G
ENST00000679909.1:c.28+18826T>G
ENSP00000506089.1:n.28+18826T>G
ENST00000453660.3:n.406T>G
ENST00000538324.2:c.392T>G
ENSP00000483018.1:p.Leu131Arg
ENST00000611156.4:c.392T>G
ENSP00000483265.1:p.Leu131Arg
NM_020469.2:c.395T>G
NP_065202.2:p.Leu132Arg
NM_020469.3:c.395T>G
NP_065202.2:p.Leu132Arg
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