ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305797
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782354375
ExAC:
9:136131525 C / T
gnomAD v2:
9-136131525-C-T
gnomAD v4:
9-133256138-C-T
MyVariant Identifiers:
chr9:g.136131525C>T (hg19)
chr9:g.133256138C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256138C>T , CM000671.2:g.133256138C>T
GRCh38
NC_000009.11:g.136131525C>T , CM000671.1:g.136131525C>T
GRCh37
NC_000009.10:g.135121346C>T
NCBI36
NG_006669.1:g.21530G>A
NG_006669.2:g.24078G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.622G>A
ENST00000647353.1:n.54-4986G>A
ENST00000651471.1:n.548G>A
ENST00000679909.1:c.28+19024G>A
ENSP00000506089.1:n.28+19024G>A
ENST00000453660.3:n.604G>A
ENST00000538324.2:c.590G>A
ENSP00000483018.1:p.Arg197Gln
ENST00000611156.4:c.590G>A
ENSP00000483265.1:p.Arg197Gln
NM_020469.2:c.593G>A
NP_065202.2:p.Arg198Gln
NM_020469.3:c.593G>A
NP_065202.2:p.Arg198Gln
Search 100 bp 5'
Search 100 bp 3'