Canonical Allele Identifier: CA9293249

Gene: GTPBP3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17338123G>C , CM000681.2:g.17338123G>C	GRCh38
NC_000019.9:g.17448932G>C , CM000681.1:g.17448932G>C	GRCh37
NC_000019.8:g.17309932G>C	NCBI36
NG_027824.1:g.8142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324894.13:c.169G>C MANE Select	ENSP00000313818.7:p.Ala57Pro
ENST00000324894.12:c.169G>C	ENSP00000313818.7:p.Ala57Pro
ENST00000358792.11:c.169G>C	ENSP00000351644.6:p.Ala57Pro
ENST00000361619.9:c.235G>C	ENSP00000354598.4:p.Ala79Pro
ENST00000593297.5:n.134G>C
ENST00000594018.5:c.169G>C	ENSP00000471421.1:p.Ala57Pro
ENST00000594345.5:n.582G>C
ENST00000596001.5:n.538G>C
ENST00000596166.5:n.331G>C
ENST00000596218.5:n.413G>C
ENST00000596941.5:n.278G>C
ENST00000598038.5:n.969G>C
ENST00000598493.5:c.169G>C	ENSP00000472156.1:p.Ala57Pro
ENST00000599329.1:n.272G>C
ENST00000599429.5:n.264G>C
ENST00000600610.5:c.*168G>C	ENSP00000469008.1:n.*168G>C
ENST00000600625.5:c.169G>C	ENSP00000473150.1:p.Ala57Pro
ENST00000600995.5:n.423G>C
ENST00000601213.5:c.224G>C	ENSP00000471657.1:p.Arg75Pro
ENST00000601261.5:n.134G>C
ENST00000602165.1:c.152G>C	ENSP00000470109.1:p.Arg51Pro
NM_001128855.2:c.169G>C	NP_001122327.1:p.Ala57Pro
NM_001195422.1:c.235G>C	NP_001182351.1:p.Ala79Pro
NM_032620.3:c.169G>C	NP_116009.2:p.Ala57Pro
NM_133644.3:c.169G>C	NP_598399.2:p.Ala57Pro
NM_032620.4:c.169G>C MANE Select	NP_116009.2:p.Ala57Pro
NM_001128855.3:c.169G>C	NP_001122327.1:p.Ala57Pro
NM_133644.4:c.169G>C	NP_598399.2:p.Ala57Pro