Canonical Allele Identifier: CA404731897

Gene: GTPBP3

Linked Data

• gnomAD v4: 19-17338154-C-A
• MyVariant Identifiers: chr19:g.17448963C>A (hg19) ; chr19:g.17338154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17338154C>A , CM000681.2:g.17338154C>A	GRCh38
NC_000019.9:g.17448963C>A , CM000681.1:g.17448963C>A	GRCh37
NC_000019.8:g.17309963C>A	NCBI36
NG_027824.1:g.8173C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324894.13:c.200C>A MANE Select	ENSP00000313818.7:p.Ala67Glu
ENST00000324894.12:c.200C>A	ENSP00000313818.7:p.Ala67Glu
ENST00000358792.11:c.200C>A	ENSP00000351644.6:p.Ala67Glu
ENST00000361619.9:c.266C>A	ENSP00000354598.4:p.Ala89Glu
ENST00000593297.5:n.165C>A
ENST00000594018.5:c.200C>A	ENSP00000471421.1:p.Ala67Glu
ENST00000594345.5:n.613C>A
ENST00000596001.5:n.569C>A
ENST00000596166.5:n.362C>A
ENST00000596218.5:n.444C>A
ENST00000596941.5:n.309C>A
ENST00000598038.5:n.1000C>A
ENST00000598493.5:c.200C>A	ENSP00000472156.1:p.Ala67Glu
ENST00000599329.1:n.303C>A
ENST00000599429.5:n.295C>A
ENST00000600610.5:c.*199C>A	ENSP00000469008.1:n.*199C>A
ENST00000600625.5:c.200C>A	ENSP00000473150.1:p.Ala67Glu
ENST00000600995.5:n.454C>A
ENST00000601213.5:c.255C>A	ENSP00000471657.1:p.Ser85Arg
ENST00000601261.5:n.165C>A
ENST00000602165.1:c.183C>A	ENSP00000470109.1:p.Ser61Arg
NM_001128855.2:c.200C>A	NP_001122327.1:p.Ala67Glu
NM_001195422.1:c.266C>A	NP_001182351.1:p.Ala89Glu
NM_032620.3:c.200C>A	NP_116009.2:p.Ala67Glu
NM_133644.3:c.200C>A	NP_598399.2:p.Ala67Glu
NM_032620.4:c.200C>A MANE Select	NP_116009.2:p.Ala67Glu
NM_001128855.3:c.200C>A	NP_001122327.1:p.Ala67Glu
NM_133644.4:c.200C>A	NP_598399.2:p.Ala67Glu