Canonical Allele Identifier: CA9293213

Gene: GTPBP3

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17338002T>C , CM000681.2:g.17338002T>C	GRCh38
NC_000019.9:g.17448811T>C , CM000681.1:g.17448811T>C	GRCh37
NC_000019.8:g.17309811T>C	NCBI36
NG_027824.1:g.8021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324894.13:c.54-6T>C MANE Select	ENSP00000313818.7:n.54-6T>C
ENST00000324894.12:c.54-6T>C	ENSP00000313818.7:n.54-6T>C
ENST00000358792.11:c.54-6T>C	ENSP00000351644.6:n.54-6T>C
ENST00000361619.9:c.120-6T>C	ENSP00000354598.4:n.120-6T>C
ENST00000593297.5:n.19-6T>C
ENST00000594018.5:c.54-6T>C	ENSP00000471421.1:n.54-6T>C
ENST00000594345.5:n.467-6T>C
ENST00000596001.5:n.417T>C
ENST00000596166.5:n.210T>C
ENST00000596218.5:n.298-6T>C
ENST00000596941.5:n.163-6T>C
ENST00000598038.5:n.854-6T>C
ENST00000598493.5:c.54-6T>C	ENSP00000472156.1:n.54-6T>C
ENST00000599329.1:n.151T>C
ENST00000599429.5:n.149-6T>C
ENST00000600610.5:c.*47T>C	ENSP00000469008.1:n.*47T>C
ENST00000600625.5:c.54-6T>C	ENSP00000473150.1:n.54-6T>C
ENST00000600995.5:n.308-6T>C
ENST00000601213.5:c.109-6T>C	ENSP00000471657.1:n.109-6T>C
ENST00000601261.5:n.19-6T>C
ENST00000602165.1:c.37-6T>C	ENSP00000470109.1:n.37-6T>C
NM_001128855.2:c.54-6T>C	NP_001122327.1:n.54-6T>C
NM_001195422.1:c.120-6T>C	NP_001182351.1:n.120-6T>C
NM_032620.3:c.54-6T>C	NP_116009.2:n.54-6T>C
NM_133644.3:c.54-6T>C	NP_598399.2:n.54-6T>C
NM_032620.4:c.54-6T>C MANE Select	NP_116009.2:n.54-6T>C
NM_001128855.3:c.54-6T>C	NP_001122327.1:n.54-6T>C
NM_133644.4:c.54-6T>C	NP_598399.2:n.54-6T>C