Canonical Allele Identifier: CA16041463
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 370441
ClinVar RCV Id: RCV000412367
dbSNP Id: rs1057516491

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166689del , CM000673.2:g.2166689del GRCh38
NC_000011.9:g.2187919del , CM000673.1:g.2187919del GRCh37
NC_000011.8:g.2144495del NCBI36
NG_008128.1:g.10117del

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.921del MANE Select ENSP00000325951.4:p.Phe308SerfsTer?
ENST00000324155.8:c.*610del ENSP00000325831.3:n.*610del
ENST00000333684.9:c.696-140del ENSP00000328814.6:n.696-140del
ENST00000352909.7:c.921del ENSP00000325951.3:p.Phe308SerfsTer?
ENST00000381168.7:c.*641del ENSP00000370560.3:n.*641del
ENST00000381175.5:c.1002del ENSP00000370567.1:p.Phe335SerfsTer?
ENST00000381178.5:c.1014del ENSP00000370571.1:p.Phe339SerfsTer?
ENST00000412076.1:c.136-140del
ENST00000416223.5:c.215del
ENST00000461172.1:n.86del
ENST00000479437.5:n.470del
NM_000360.3:c.921del NP_000351.2:p.Phe308SerfsTer?
NM_199292.2:c.1014del NP_954986.2:p.Phe339SerfsTer?
NM_199293.2:c.1002del NP_954987.2:p.Phe335SerfsTer?
XM_011520335.1:c.933del XP_011518637.1:p.Phe312SerfsTer?
XM_011520335.2:c.933del XP_011518637.1:p.Phe312SerfsTer?
NM_000360.4:c.921del MANE Select NP_000351.2:p.Phe308SerfsTer?
NM_199292.3:c.1014del NP_954986.2:p.Phe339SerfsTer?
NM_199293.3:c.1002del NP_954987.2:p.Phe335SerfsTer?