ClinGen Allele Registry
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Canonical Allele Identifier:
CA375684595
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131246T>C (hg19)
chr9:g.133255859T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255859T>C , CM000671.2:g.133255859T>C
GRCh38
NC_000009.11:g.136131246T>C , CM000671.1:g.136131246T>C
GRCh37
NC_000009.10:g.135121067T>C
NCBI36
NG_006669.1:g.21809A>G
NG_006669.2:g.24357A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.901A>G
ENST00000647353.1:n.54-4707A>G
ENST00000679909.1:c.28+19303A>G
ENSP00000506089.1:n.28+19303A>G
ENST00000453660.3:n.883A>G
ENST00000538324.2:c.869A>G
ENSP00000483018.1:p.Asp290Gly
ENST00000611156.4:c.869A>G
ENSP00000483265.1:p.Asp290Gly
NM_020469.2:c.872A>G
NP_065202.2:p.Asp291Gly
NM_020469.3:c.872A>G
NP_065202.2:p.Asp291Gly
Search 100 bp 5'
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