ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305923
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782456103
ExAC:
9:136132915 A / G
gnomAD v2:
9-136132915-A-G
gnomAD v4:
9-133257528-A-G
MyVariant Identifiers:
chr9:g.136132915A>G (hg19)
chr9:g.133257528A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257528A>G , CM000671.2:g.133257528A>G
GRCh38
NC_000009.11:g.136132915A>G , CM000671.1:g.136132915A>G
GRCh37
NC_000009.10:g.135122736A>G
NCBI36
NG_006669.1:g.20139T>C
NG_006669.2:g.22687T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.284T>C
ENST00000647353.1:n.54-6376T>C
ENST00000651471.1:n.329+514T>C
ENST00000679909.1:c.28+17634T>C
ENSP00000506089.1:n.28+17634T>C
ENST00000453660.3:n.266T>C
ENST00000538324.2:c.254T>C
ENSP00000483018.1:p.Leu85Pro
ENST00000611156.4:c.254T>C
ENSP00000483265.1:p.Leu85Pro
NM_020469.2:c.254T>C
NP_065202.2:p.Leu85Pro
NM_020469.3:c.254T>C
NP_065202.2:p.Leu85Pro
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