ClinGen Allele Registry
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Canonical Allele Identifier:
CA375682251
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131030C>G (hg19)
chr9:g.133255643C>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255643C>G , CM000671.2:g.133255643C>G
GRCh38
NC_000009.11:g.136131030C>G , CM000671.1:g.136131030C>G
GRCh37
NC_000009.10:g.135120851C>G
NCBI36
NG_006669.1:g.22025G>C
NG_006669.2:g.24573G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1117G>C
ENST00000647353.1:n.54-4491G>C
ENST00000679909.1:c.28+19519G>C
ENSP00000506089.1:n.28+19519G>C
ENST00000453660.3:n.1099G>C
ENST00000538324.2:c.1081G>C
ENSP00000483018.1:p.Gly361Arg
ENST00000611156.4:c.*23G>C
ENSP00000483265.1:n.*23G>C
NM_020469.2:c.*23G>C
NP_065202.2:n.*23G>C
NM_020469.3:c.*23G>C
NP_065202.2:n.*23G>C
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