ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686786
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136132920A>C (hg19)
chr9:g.133257533A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257533A>C , CM000671.2:g.133257533A>C
GRCh38
NC_000009.11:g.136132920A>C , CM000671.1:g.136132920A>C
GRCh37
NC_000009.10:g.135122741A>C
NCBI36
NG_006669.1:g.20134T>G
NG_006669.2:g.22682T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.279T>G
ENST00000647353.1:n.54-6381T>G
ENST00000651471.1:n.329+509T>G
ENST00000679909.1:c.28+17629T>G
ENSP00000506089.1:n.28+17629T>G
ENST00000453660.3:n.261T>G
ENST00000538324.2:c.249T>G
ENSP00000483018.1:p.Asp83Glu
ENST00000611156.4:c.249T>G
ENSP00000483265.1:p.Asp83Glu
NM_020469.2:c.249T>G
NP_065202.2:p.Asp83Glu
NM_020469.3:c.249T>G
NP_065202.2:p.Asp83Glu
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