Canonical Allele Identifier: CA16041461
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 371299
ClinVar RCV Id: RCV000411713
dbSNP Id: rs1057517162

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166530del , CM000673.2:g.2166530del GRCh38
NC_000011.9:g.2187760del , CM000673.1:g.2187760del GRCh37
NC_000011.8:g.2144336del NCBI36
NG_008128.1:g.10276del

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.997del MANE Select ENSP00000325951.4:p.Leu333TrpfsTer?
ENST00000324155.8:c.*686del ENSP00000325831.3:n.*686del
ENST00000333684.9:c.715del ENSP00000328814.6:p.Leu239TrpfsTer?
ENST00000352909.7:c.997del ENSP00000325951.3:p.Leu333TrpfsTer?
ENST00000381168.7:c.*717del ENSP00000370560.3:n.*717del
ENST00000381175.5:c.1078del ENSP00000370567.1:p.Leu360TrpfsTer?
ENST00000381178.5:c.1090del ENSP00000370571.1:p.Leu364TrpfsTer?
ENST00000412076.1:c.155del
ENST00000416223.5:c.291del
ENST00000461172.1:n.162del
ENST00000479437.5:n.546del
NM_000360.3:c.997del NP_000351.2:p.Leu333TrpfsTer?
NM_199292.2:c.1090del NP_954986.2:p.Leu364TrpfsTer?
NM_199293.2:c.1078del NP_954987.2:p.Leu360TrpfsTer?
XM_011520335.1:c.1009del XP_011518637.1:p.Leu337TrpfsTer?
XM_011520335.2:c.1009del XP_011518637.1:p.Leu337TrpfsTer?
NM_000360.4:c.997del MANE Select NP_000351.2:p.Leu333TrpfsTer?
NM_199292.3:c.1090del NP_954986.2:p.Leu364TrpfsTer?
NM_199293.3:c.1078del NP_954987.2:p.Leu360TrpfsTer?