ClinGen Allele Registry
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Canonical Allele Identifier:
CA375683470
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131100T>C (hg19)
chr9:g.133255713T>C (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255713T>C , CM000671.2:g.133255713T>C
GRCh38
NC_000009.11:g.136131100T>C , CM000671.1:g.136131100T>C
GRCh37
NC_000009.10:g.135120921T>C
NCBI36
NG_006669.1:g.21955A>G
NG_006669.2:g.24503A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1047A>G
ENST00000647353.1:n.54-4561A>G
ENST00000679909.1:c.28+19449A>G
ENSP00000506089.1:n.28+19449A>G
ENST00000453660.3:n.1029A>G
ENST00000538324.2:c.1015A>G
ENSP00000483018.1:p.Arg339Gly
ENST00000611156.4:c.1015A>G
ENSP00000483265.1:p.Arg339Gly
NM_020469.2:c.1018A>G
NP_065202.2:p.Arg340Gly
NM_020469.3:c.1018A>G
NP_065202.2:p.Arg340Gly
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