ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686121
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1444232833
gnomAD v2:
9-136131558-C-T
gnomAD v4:
9-133256171-C-T
MyVariant Identifiers:
chr9:g.136131558C>T (hg19)
chr9:g.133256171C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256171C>T , CM000671.2:g.133256171C>T
GRCh38
NC_000009.11:g.136131558C>T , CM000671.1:g.136131558C>T
GRCh37
NC_000009.10:g.135121379C>T
NCBI36
NG_006669.1:g.21497G>A
NG_006669.2:g.24045G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.589G>A
ENST00000647353.1:n.54-5019G>A
ENST00000651471.1:n.515G>A
ENST00000679909.1:c.28+18991G>A
ENSP00000506089.1:n.28+18991G>A
ENST00000453660.3:n.571G>A
ENST00000538324.2:c.557G>A
ENSP00000483018.1:p.Arg186His
ENST00000611156.4:c.557G>A
ENSP00000483265.1:p.Arg186His
NM_020469.2:c.560G>A
NP_065202.2:p.Arg187His
NM_020469.3:c.560G>A
NP_065202.2:p.Arg187His
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