This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA9293483
Gene: GTPBP3 HGNC NCBI
ClinVar RCV:
RCV000436556
RCV001702641
RCV002061670
ClinVar Variation:
379977
COSMIC:
COSM5000036
COSM5000037
dbSNP:
3810206
gnomAD v2:
19:17450016 T / C
gnomAD v3:
19:17339207 T / C
gnomAD v4:
chr19-17339207-T-C
Joint Max Group AF 0.85534507 (AFR)
Genomes Max Group AF 0.85145624 (AFR)
Exomes Max Group AF 0.85503601 (AFR)
MyVariant.info:
GRCh38 chr19:g.17339207T>C
GRCh37 chr19:g.17450016T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17339207T>C , CM000681.2:g.17339207T>C GRCh38
NC_000019.9:g.17450016T>C , CM000681.1:g.17450016T>C GRCh37
NC_000019.8:g.17311016T>C NCBI36
NG_027824.1:g.9226T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324894.13:c.749T>C MANE Select ENSP00000313818.7:p.Val250Ala
ENST00000324894.12:c.749T>C ENSP00000313818.7:p.Val250Ala
ENST00000358792.11:c.845T>C ENSP00000351644.6:p.Val282Ala
ENST00000361619.9:c.815T>C ENSP00000354598.4:p.Val272Ala
ENST00000594018.5:c.676T>C ENSP00000471421.1:p.Cys226Arg
ENST00000594703.1:n.448T>C
ENST00000596166.5:n.911T>C
ENST00000598038.5:n.1645T>C
ENST00000598493.5:c.448T>C ENSP00000472156.1:p.Cys150Arg
ENST00000600610.5:c.*748T>C ENSP00000469008.1:n.*748T>C
ENST00000600625.5:c.749T>C ENSP00000473150.1:p.Val250Ala
ENST00000602056.1:n.354T>C
NM_001128855.2:c.749T>C NP_001122327.1:p.Val250Ala
NM_001195422.1:c.815T>C NP_001182351.1:p.Val272Ala
NM_032620.3:c.749T>C NP_116009.2:p.Val250Ala
NM_133644.3:c.845T>C NP_598399.2:p.Val282Ala
NM_032620.4:c.749T>C MANE Select NP_116009.2:p.Val250Ala
NM_001128855.3:c.749T>C NP_001122327.1:p.Val250Ala
NM_133644.4:c.845T>C NP_598399.2:p.Val282Ala
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