ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686326
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131663A>T (hg19)
chr9:g.133256276A>T (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256276A>T , CM000671.2:g.133256276A>T
GRCh38
NC_000009.11:g.136131663A>T , CM000671.1:g.136131663A>T
GRCh37
NC_000009.10:g.135121484A>T
NCBI36
NG_006669.1:g.21392T>A
NG_006669.2:g.23940T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.484T>A
ENST00000647353.1:n.54-5124T>A
ENST00000651471.1:n.410T>A
ENST00000679909.1:c.28+18886T>A
ENSP00000506089.1:n.28+18886T>A
ENST00000453660.3:n.466T>A
ENST00000538324.2:c.452T>A
ENSP00000483018.1:p.Phe151Tyr
ENST00000611156.4:c.452T>A
ENSP00000483265.1:p.Phe151Tyr
NM_020469.2:c.455T>A
NP_065202.2:p.Phe152Tyr
NM_020469.3:c.455T>A
NP_065202.2:p.Phe152Tyr
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