Canonical Allele Identifier: CA10174943

Gene: THOC5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29529216C>T , CM000684.2:g.29529216C>T	GRCh38
NC_000022.10:g.29925205C>T , CM000684.1:g.29925205C>T	GRCh37
NC_000022.9:g.28255205C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490103.6:c.871G>A MANE Select	ENSP00000420306.1:p.Glu291Lys
ENST00000358079.8:c.*501G>A	ENSP00000444493.1:n.*501G>A
ENST00000397871.5:c.871G>A	ENSP00000380969.1:p.Glu291Lys
ENST00000397872.5:c.871G>A	ENSP00000380970.1:p.Glu291Lys
ENST00000397873.6:c.871G>A	ENSP00000380971.2:p.Glu291Lys
ENST00000442555.5:c.904G>A	ENSP00000416500.1:p.Glu302Lys
ENST00000443089.5:c.482G>A
ENST00000484924.5:n.139G>A
ENST00000490103.5:c.871G>A	ENSP00000420306.1:p.Glu291Lys
ENST00000492707.5:n.412G>A
NM_001002877.1:c.871G>A	NP_001002877.1:p.Glu291Lys
NM_001002878.1:c.871G>A	NP_001002878.1:p.Glu291Lys
NM_001002879.1:c.871G>A	NP_001002879.1:p.Glu291Lys
NM_003678.4:c.871G>A	NP_003669.4:p.Glu291Lys
XM_005261797.1:c.904G>A	XP_005261854.1:p.Glu302Lys
XM_005261798.1:c.904G>A	XP_005261855.1:p.Glu302Lys
XM_005261799.1:c.904G>A	XP_005261856.1:p.Glu302Lys
XM_006724347.1:c.904G>A	XP_006724410.1:p.Glu302Lys
XM_005261801.4:c.-299G>A	XP_005261858.1:n.-299G>A
XM_017029027.2:c.904G>A	XP_016884516.1:p.Glu302Lys
XM_024452296.1:c.871G>A	XP_024308064.1:p.Glu291Lys
XR_001755346.1:n.972G>A
NM_001002877.2:c.871G>A	NP_001002877.1:p.Glu291Lys
NM_003678.5:c.871G>A MANE Select	NP_003669.4:p.Glu291Lys