Canonical Allele Identifier: CA2695201057

Gene: TH

Linked Data

• ClinVar Variation Id: 2679209
• ClinVar RCV Id: RCV003474124

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167020del , CM000673.2:g.2167020del	GRCh38
NC_000011.9:g.2188250del , CM000673.1:g.2188250del	GRCh37
NC_000011.8:g.2144826del	NCBI36
NG_008128.1:g.9786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.708del MANE Select	ENSP00000325951.4:p.Tyr236Ter
ENST00000324155.8:c.*397del	ENSP00000325831.3:n.*397del
ENST00000333684.9:c.695+415del	ENSP00000328814.6:n.695+415del
ENST00000352909.7:c.708del	ENSP00000325951.3:p.Tyr236Ter
ENST00000381168.7:c.*428del	ENSP00000370560.3:n.*428del
ENST00000381175.5:c.789del	ENSP00000370567.1:p.Tyr263Ter
ENST00000381178.5:c.801del	ENSP00000370571.1:p.Tyr267Ter
ENST00000412076.1:c.135+415del
ENST00000416223.5:c.136-252del
ENST00000469226.1:n.837del
ENST00000479437.5:n.257del
NM_000360.3:c.708del	NP_000351.2:p.Tyr236Ter
NM_199292.2:c.801del	NP_954986.2:p.Tyr267Ter
NM_199293.2:c.789del	NP_954987.2:p.Tyr263Ter
XM_011520335.1:c.720del	XP_011518637.1:p.Tyr240Ter
XM_011520335.2:c.720del	XP_011518637.1:p.Tyr240Ter
NM_000360.4:c.708del MANE Select	NP_000351.2:p.Tyr236Ter
NM_199292.3:c.801del	NP_954986.2:p.Tyr267Ter
NM_199293.3:c.789del	NP_954987.2:p.Tyr263Ter