ClinGen Allele Registry
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Canonical Allele Identifier:
CA375683940
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131169T>G (hg19)
chr9:g.133255782T>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255782T>G , CM000671.2:g.133255782T>G
GRCh38
NC_000009.11:g.136131169T>G , CM000671.1:g.136131169T>G
GRCh37
NC_000009.10:g.135120990T>G
NCBI36
NG_006669.1:g.21886A>C
NG_006669.2:g.24434A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.978A>C
ENST00000647353.1:n.54-4630A>C
ENST00000679909.1:c.28+19380A>C
ENSP00000506089.1:n.28+19380A>C
ENST00000453660.3:n.960A>C
ENST00000538324.2:c.946A>C
ENSP00000483018.1:p.Lys316Gln
ENST00000611156.4:c.946A>C
ENSP00000483265.1:p.Lys316Gln
NM_020469.2:c.949A>C
NP_065202.2:p.Lys317Gln
NM_020469.3:c.949A>C
NP_065202.2:p.Lys317Gln
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