Canonical Allele Identifier: CA14950030

Gene: THOC5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29533250G>A , CM000684.2:g.29533250G>A	GRCh38
NC_000022.10:g.29929239G>A , CM000684.1:g.29929239G>A	GRCh37
NC_000022.9:g.28259239G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490103.6:c.715-1287C>T MANE Select	ENSP00000420306.1:n.715-1287C>T
ENST00000358079.8:c.*345-1287C>T	ENSP00000444493.1:n.*345-1287C>T
ENST00000397871.5:c.715-1287C>T	ENSP00000380969.1:n.715-1287C>T
ENST00000397872.5:c.715-1287C>T	ENSP00000380970.1:n.715-1287C>T
ENST00000397873.6:c.715-1287C>T	ENSP00000380971.2:n.715-1287C>T
ENST00000442555.5:c.715-1287C>T	ENSP00000416500.1:n.715-1287C>T
ENST00000443089.5:c.293-1287C>T
ENST00000484924.5:n.115+3374C>T
ENST00000488052.1:n.116-1287C>T
ENST00000490103.5:c.715-1287C>T	ENSP00000420306.1:n.715-1287C>T
ENST00000492707.5:n.256-1287C>T
NM_001002877.1:c.715-1287C>T	NP_001002877.1:n.715-1287C>T
NM_001002878.1:c.715-1287C>T	NP_001002878.1:n.715-1287C>T
NM_001002879.1:c.715-1287C>T	NP_001002879.1:n.715-1287C>T
NM_003678.4:c.715-1287C>T	NP_003669.4:n.715-1287C>T
XM_005261797.1:c.715-1287C>T	XP_005261854.1:n.715-1287C>T
XM_005261798.1:c.715-1287C>T	XP_005261855.1:n.715-1287C>T
XM_005261799.1:c.715-1287C>T	XP_005261856.1:n.715-1287C>T
XM_006724347.1:c.715-1287C>T	XP_006724410.1:n.715-1287C>T
XM_005261801.4:c.-455-1287C>T	XP_005261858.1:n.-455-1287C>T
XM_017029027.2:c.715-1287C>T	XP_016884516.1:n.715-1287C>T
XM_024452296.1:c.715-1287C>T	XP_024308064.1:n.715-1287C>T
XR_001755346.1:n.816-1287C>T
NM_001002877.2:c.715-1287C>T	NP_001002877.1:n.715-1287C>T
NM_003678.5:c.715-1287C>T MANE Select	NP_003669.4:n.715-1287C>T