ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685782
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131472A>G (hg19)
chr9:g.133256085A>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256085A>G , CM000671.2:g.133256085A>G
GRCh38
NC_000009.11:g.136131472A>G , CM000671.1:g.136131472A>G
GRCh37
NC_000009.10:g.135121293A>G
NCBI36
NG_006669.1:g.21583T>C
NG_006669.2:g.24131T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.675T>C
ENST00000647353.1:n.54-4933T>C
ENST00000679909.1:c.28+19077T>C
ENSP00000506089.1:n.28+19077T>C
ENST00000453660.3:n.657T>C
ENST00000538324.2:c.643T>C
ENSP00000483018.1:p.Phe215Leu
ENST00000611156.4:c.643T>C
ENSP00000483265.1:p.Phe215Leu
NM_020469.2:c.646T>C
NP_065202.2:p.Phe216Leu
NM_020469.3:c.646T>C
NP_065202.2:p.Phe216Leu
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