Canonical Allele Identifier: CA9293223

Gene: GTPBP3

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17338030G>T , CM000681.2:g.17338030G>T	GRCh38
NC_000019.9:g.17448839G>T , CM000681.1:g.17448839G>T	GRCh37
NC_000019.8:g.17309839G>T	NCBI36
NG_027824.1:g.8049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324894.13:c.76G>T MANE Select	ENSP00000313818.7:p.Gly26Cys
ENST00000324894.12:c.76G>T	ENSP00000313818.7:p.Gly26Cys
ENST00000358792.11:c.76G>T	ENSP00000351644.6:p.Gly26Cys
ENST00000361619.9:c.142G>T	ENSP00000354598.4:p.Gly48Cys
ENST00000593297.5:n.41G>T
ENST00000594018.5:c.76G>T	ENSP00000471421.1:p.Gly26Cys
ENST00000594345.5:n.489G>T
ENST00000596001.5:n.445G>T
ENST00000596166.5:n.238G>T
ENST00000596218.5:n.320G>T
ENST00000596941.5:n.185G>T
ENST00000598038.5:n.876G>T
ENST00000598493.5:c.76G>T	ENSP00000472156.1:p.Gly26Cys
ENST00000599329.1:n.179G>T
ENST00000599429.5:n.171G>T
ENST00000600610.5:c.*75G>T	ENSP00000469008.1:n.*75G>T
ENST00000600625.5:c.76G>T	ENSP00000473150.1:p.Gly26Cys
ENST00000600995.5:n.330G>T
ENST00000601213.5:c.131G>T	ENSP00000471657.1:p.Arg44Leu
ENST00000601261.5:n.41G>T
ENST00000602165.1:c.59G>T	ENSP00000470109.1:p.Arg20Leu
NM_001128855.2:c.76G>T	NP_001122327.1:p.Gly26Cys
NM_001195422.1:c.142G>T	NP_001182351.1:p.Gly48Cys
NM_032620.3:c.76G>T	NP_116009.2:p.Gly26Cys
NM_133644.3:c.76G>T	NP_598399.2:p.Gly26Cys
NM_032620.4:c.76G>T MANE Select	NP_116009.2:p.Gly26Cys
NM_001128855.3:c.76G>T	NP_001122327.1:p.Gly26Cys
NM_133644.4:c.76G>T	NP_598399.2:p.Gly26Cys