ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686338
Gene: ABO
HGNC
NCBI
Linked Data
gnomAD v4:
9-133256282-T-C
MyVariant Identifiers:
chr9:g.136131669T>C (hg19)
chr9:g.133256282T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256282T>C , CM000671.2:g.133256282T>C
GRCh38
NC_000009.11:g.136131669T>C , CM000671.1:g.136131669T>C
GRCh37
NC_000009.10:g.135121490T>C
NCBI36
NG_006669.1:g.21386A>G
NG_006669.2:g.23934A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.478A>G
ENST00000647353.1:n.54-5130A>G
ENST00000651471.1:n.404A>G
ENST00000679909.1:c.28+18880A>G
ENSP00000506089.1:n.28+18880A>G
ENST00000453660.3:n.460A>G
ENST00000538324.2:c.446A>G
ENSP00000483018.1:p.Tyr149Cys
ENST00000611156.4:c.446A>G
ENSP00000483265.1:p.Tyr149Cys
NM_020469.2:c.449A>G
NP_065202.2:p.Tyr150Cys
NM_020469.3:c.449A>G
NP_065202.2:p.Tyr150Cys
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