Canonical Allele Identifier: CA404731695

Gene: GTPBP3

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17338094G>A , CM000681.2:g.17338094G>A	GRCh38
NC_000019.9:g.17448903G>A , CM000681.1:g.17448903G>A	GRCh37
NC_000019.8:g.17309903G>A	NCBI36
NG_027824.1:g.8113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324894.13:c.140G>A MANE Select	ENSP00000313818.7:p.Gly47Asp
ENST00000324894.12:c.140G>A	ENSP00000313818.7:p.Gly47Asp
ENST00000358792.11:c.140G>A	ENSP00000351644.6:p.Gly47Asp
ENST00000361619.9:c.206G>A	ENSP00000354598.4:p.Gly69Asp
ENST00000593297.5:n.105G>A
ENST00000594018.5:c.140G>A	ENSP00000471421.1:p.Gly47Asp
ENST00000594345.5:n.553G>A
ENST00000596001.5:n.509G>A
ENST00000596166.5:n.302G>A
ENST00000596218.5:n.384G>A
ENST00000596941.5:n.249G>A
ENST00000598038.5:n.940G>A
ENST00000598493.5:c.140G>A	ENSP00000472156.1:p.Gly47Asp
ENST00000599329.1:n.243G>A
ENST00000599429.5:n.235G>A
ENST00000600610.5:c.*139G>A	ENSP00000469008.1:n.*139G>A
ENST00000600625.5:c.140G>A	ENSP00000473150.1:p.Gly47Asp
ENST00000600995.5:n.394G>A
ENST00000601213.5:c.195G>A	ENSP00000471657.1:p.Arg65=
ENST00000601261.5:n.105G>A
ENST00000602165.1:c.123G>A	ENSP00000470109.1:p.Arg41=
NM_001128855.2:c.140G>A	NP_001122327.1:p.Gly47Asp
NM_001195422.1:c.206G>A	NP_001182351.1:p.Gly69Asp
NM_032620.3:c.140G>A	NP_116009.2:p.Gly47Asp
NM_133644.3:c.140G>A	NP_598399.2:p.Gly47Asp
NM_032620.4:c.140G>A MANE Select	NP_116009.2:p.Gly47Asp
NM_001128855.3:c.140G>A	NP_001122327.1:p.Gly47Asp
NM_133644.4:c.140G>A	NP_598399.2:p.Gly47Asp