Canonical Allele Identifier: CA9293179
Gene: GTPBP3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17337851T>C , CM000681.2:g.17337851T>C GRCh38
NC_000019.9:g.17448660T>C , CM000681.1:g.17448660T>C GRCh37
NC_000019.8:g.17309660T>C NCBI36
NG_027824.1:g.7870T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324894.13:c.54-157T>C MANE Select ENSP00000313818.7:n.54-157T>C
ENST00000324894.12:c.54-157T>C ENSP00000313818.7:n.54-157T>C
ENST00000358792.11:c.54-157T>C ENSP00000351644.6:n.54-157T>C
ENST00000361619.9:c.120-157T>C ENSP00000354598.4:n.120-157T>C
ENST00000593297.5:n.19-157T>C
ENST00000594018.5:c.54-157T>C ENSP00000471421.1:n.54-157T>C
ENST00000594345.5:n.467-157T>C
ENST00000595951.1:n.431-23T>C
ENST00000596001.5:n.266T>C
ENST00000596166.5:n.107-48T>C
ENST00000596218.5:n.298-157T>C
ENST00000596941.5:n.163-157T>C
ENST00000598038.5:n.854-157T>C
ENST00000598493.5:c.54-157T>C ENSP00000472156.1:n.54-157T>C
ENST00000599329.1:n.48-48T>C
ENST00000599429.5:n.149-157T>C
ENST00000600610.5:c.54-23T>C ENSP00000469008.1:n.54-23T>C
ENST00000600625.5:c.54-157T>C ENSP00000473150.1:n.54-157T>C
ENST00000600995.5:n.308-157T>C
ENST00000601213.5:c.109-157T>C ENSP00000471657.1:n.109-157T>C
ENST00000601261.5:n.19-157T>C
ENST00000602165.1:c.37-157T>C ENSP00000470109.1:n.37-157T>C
NM_001128855.2:c.54-157T>C NP_001122327.1:n.54-157T>C
NM_001195422.1:c.120-157T>C NP_001182351.1:n.120-157T>C
NM_032620.3:c.54-157T>C NP_116009.2:n.54-157T>C
NM_133644.3:c.54-157T>C NP_598399.2:n.54-157T>C
NM_032620.4:c.54-157T>C MANE Select NP_116009.2:n.54-157T>C
NM_001128855.3:c.54-157T>C NP_001122327.1:n.54-157T>C
NM_133644.4:c.54-157T>C NP_598399.2:n.54-157T>C