Canonical Allele Identifier: CA2723225146

Gene: TH

Linked Data

• dbSNP Id: rs2133692710

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166663_2166667dup , CM000673.2:g.2166663_2166667dup	GRCh38
NC_000011.9:g.2187893_2187897dup , CM000673.1:g.2187893_2187897dup	GRCh37
NC_000011.8:g.2144469_2144473dup	NCBI36
NG_008128.1:g.10142_10146dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.946_950dup MANE Select	ENSP00000325951.4:p.Ser318ThrfsTer?
ENST00000324155.8:c.*635_*639dup	ENSP00000325831.3:n.*635_*639dup
ENST00000333684.9:c.696-115_696-111dup	ENSP00000328814.6:n.696-115_696-111dup
ENST00000352909.7:c.946_950dup	ENSP00000325951.3:p.Ser318ThrfsTer?
ENST00000381168.7:c.*666_*670dup	ENSP00000370560.3:n.*666_*670dup
ENST00000381175.5:c.1027_1031dup	ENSP00000370567.1:p.Ser345ThrfsTer?
ENST00000381178.5:c.1039_1043dup	ENSP00000370571.1:p.Ser349ThrfsTer?
ENST00000412076.1:c.136-115_136-111dup
ENST00000416223.5:c.240_244dup
ENST00000461172.1:n.111_115dup
ENST00000479437.5:n.495_499dup
NM_000360.3:c.946_950dup	NP_000351.2:p.Ser318ThrfsTer?
NM_199292.2:c.1039_1043dup	NP_954986.2:p.Ser349ThrfsTer?
NM_199293.2:c.1027_1031dup	NP_954987.2:p.Ser345ThrfsTer?
XM_011520335.1:c.958_962dup	XP_011518637.1:p.Ser322ThrfsTer?
XM_011520335.2:c.958_962dup	XP_011518637.1:p.Ser322ThrfsTer?
NM_000360.4:c.946_950dup MANE Select	NP_000351.2:p.Ser318ThrfsTer?
NM_199292.3:c.1039_1043dup	NP_954986.2:p.Ser349ThrfsTer?
NM_199293.3:c.1027_1031dup	NP_954987.2:p.Ser345ThrfsTer?