Canonical Allele Identifier: CA278134
Gene: TH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12334
ClinVar RCV Id: RCV000013127
dbSNP Id: rs121917765

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166544C>A , CM000673.2:g.2166544C>A GRCh38
NC_000011.9:g.2187774C>A , CM000673.1:g.2187774C>A GRCh37
NC_000011.8:g.2144350C>A NCBI36
NG_008128.1:g.10262G>T

Transcript Alleles

HGVS Amino-acid change
NM_000360.3:c.983G>T VV NP_000351.2:p.Cys328Phe
NM_199292.2:c.1076G>T VV NP_954986.2:p.Cys359Phe
NM_199293.2:c.1064G>T VV NP_954987.2:p.Cys355Phe
XM_011520335.1:c.995G>T XP_011518637.1:p.Cys332Phe
XM_011520335.2:c.995G>T XP_011518637.1:p.Cys332Phe
ENST00000324155.8:c.*672G>T ENSP00000325831.3:p.=
ENST00000333684.9:c.701G>T ENSP00000328814.6:p.Cys234Phe
ENST00000352909.7:c.983G>T ENSP00000325951.3:p.Cys328Phe
ENST00000381168.7:c.*703G>T ENSP00000370560.3:p.=
ENST00000381175.5:c.1064G>T ENSP00000370567.1:p.Cys355Phe
ENST00000381178.5:c.1076G>T ENSP00000370571.1:p.Cys359Phe
ENST00000412076.1:n.141G>T
ENST00000416223.5:n.277G>T
ENST00000461172.1:n.148G>T
ENST00000479437.5:n.532G>T