ClinGen Allele Registry
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Canonical Allele Identifier:
CA375683426
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131096A>C (hg19)
chr9:g.133255709A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255709A>C , CM000671.2:g.133255709A>C
GRCh38
NC_000009.11:g.136131096A>C , CM000671.1:g.136131096A>C
GRCh37
NC_000009.10:g.135120917A>C
NCBI36
NG_006669.1:g.21959T>G
NG_006669.2:g.24507T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.1051T>G
ENST00000647353.1:n.54-4557T>G
ENST00000679909.1:c.28+19453T>G
ENSP00000506089.1:n.28+19453T>G
ENST00000453660.3:n.1033T>G
ENST00000538324.2:c.1019T>G
ENSP00000483018.1:p.Phe340Cys
ENST00000611156.4:c.1019T>G
ENSP00000483265.1:p.Phe340Cys
NM_020469.2:c.1022T>G
NP_065202.2:p.Phe341Cys
NM_020469.3:c.1022T>G
NP_065202.2:p.Phe341Cys
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