ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305751
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782626424
ExAC:
9:136131381 T / C
gnomAD v2:
9-136131381-T-C
gnomAD v4:
9-133255994-T-C
MyVariant Identifiers:
chr9:g.136131381T>C (hg19)
chr9:g.133255994T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255994T>C , CM000671.2:g.133255994T>C
GRCh38
NC_000009.11:g.136131381T>C , CM000671.1:g.136131381T>C
GRCh37
NC_000009.10:g.135121202T>C
NCBI36
NG_006669.1:g.21674A>G
NG_006669.2:g.24222A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.766A>G
ENST00000647353.1:n.54-4842A>G
ENST00000679909.1:c.28+19168A>G
ENSP00000506089.1:n.28+19168A>G
ENST00000453660.3:n.748A>G
ENST00000538324.2:c.734A>G
ENSP00000483018.1:p.Tyr245Cys
ENST00000611156.4:c.734A>G
ENSP00000483265.1:p.Tyr245Cys
NM_020469.2:c.737A>G
NP_065202.2:p.Tyr246Cys
NM_020469.3:c.737A>G
NP_065202.2:p.Tyr246Cys
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