ClinGen Allele Registry
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Canonical Allele Identifier:
CA375683266
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131078T>A (hg19)
chr9:g.133255691T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255691T>A , CM000671.2:g.133255691T>A
GRCh38
NC_000009.11:g.136131078T>A , CM000671.1:g.136131078T>A
GRCh37
NC_000009.10:g.135120899T>A
NCBI36
NG_006669.1:g.21977A>T
NG_006669.2:g.24525A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1069A>T
ENST00000647353.1:n.54-4539A>T
ENST00000679909.1:c.28+19471A>T
ENSP00000506089.1:n.28+19471A>T
ENST00000453660.3:n.1051A>T
ENST00000538324.2:c.1037A>T
ENSP00000483018.1:p.Asn346Ile
ENST00000611156.4:c.1037A>T
ENSP00000483265.1:p.Asn346Ile
NM_020469.2:c.1040A>T
NP_065202.2:p.Asn347Ile
NM_020469.3:c.1040A>T
NP_065202.2:p.Asn347Ile
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