Canonical Allele Identifier: CA16041468
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 370720
ClinVar RCV Id: RCV000410048
dbSNP Id: rs1057516716

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171779dup , CM000673.2:g.2171779dup GRCh38
NC_000011.9:g.2193009dup , CM000673.1:g.2193009dup GRCh37
NC_000011.8:g.2149585dup NCBI36
NG_008128.1:g.5031dup

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.12dup MANE Select ENSP00000325951.4:p.Asp5ArgfsTer16
ENST00000324155.8:c.12dup ENSP00000325831.3:p.Asp5ArgfsTer16
ENST00000333684.9:c.12dup ENSP00000328814.6:p.Asp5ArgfsTer16
ENST00000352909.7:c.12dup ENSP00000325951.3:p.Asp5ArgfsTer16
ENST00000381168.7:c.12dup ENSP00000370560.3:p.Asp5ArgfsTer16
ENST00000381175.5:c.12dup ENSP00000370567.1:p.Asp5ArgfsTer16
ENST00000381178.5:c.12dup ENSP00000370571.1:p.Asp5ArgfsTer16
NM_000360.3:c.12dup NP_000351.2:p.Asp5ArgfsTer16
NM_199292.2:c.12dup NP_954986.2:p.Asp5ArgfsTer16
NM_199293.2:c.12dup NP_954987.2:p.Asp5ArgfsTer16
XM_011520335.1:c.12dup XP_011518637.1:p.Asp5ArgfsTer16
XM_011520335.2:c.12dup XP_011518637.1:p.Asp5ArgfsTer16
NM_000360.4:c.12dup MANE Select NP_000351.2:p.Asp5ArgfsTer16
NM_199292.3:c.12dup NP_954986.2:p.Asp5ArgfsTer16
NM_199293.3:c.12dup NP_954987.2:p.Asp5ArgfsTer16