Canonical Allele Identifier: CA16043869
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 374732
dbSNP Id: rs1057519220
gnomAD v2: 11-2190900-G-A
gnomAD v3: 11-2169670-G-A
gnomAD v4: 11-2169670-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169670G>A , CM000673.2:g.2169670G>A GRCh38
NC_000011.9:g.2190900G>A , CM000673.1:g.2190900G>A GRCh37
NC_000011.8:g.2147476G>A NCBI36
NG_008128.1:g.7136C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.292C>T MANE Select ENSP00000325951.4:p.Arg98Ter
ENST00000324155.8:c.116C>T ENSP00000325831.3:p.Pro39Leu
ENST00000333684.9:c.292C>T ENSP00000328814.6:p.Arg98Ter
ENST00000352909.7:c.292C>T ENSP00000325951.3:p.Arg98Ter
ENST00000381168.7:c.128C>T ENSP00000370560.3:p.Pro43Leu
ENST00000381175.5:c.373C>T ENSP00000370567.1:p.Arg125Ter
ENST00000381178.5:c.385C>T ENSP00000370571.1:p.Arg129Ter
NM_000360.3:c.292C>T NP_000351.2:p.Arg98Ter
NM_199292.2:c.385C>T NP_954986.2:p.Arg129Ter
NM_199293.2:c.373C>T NP_954987.2:p.Arg125Ter
XM_011520335.1:c.304C>T XP_011518637.1:p.Arg102Ter
XM_011520335.2:c.304C>T XP_011518637.1:p.Arg102Ter
NM_000360.4:c.292C>T MANE Select NP_000351.2:p.Arg98Ter
NM_199292.3:c.385C>T NP_954986.2:p.Arg129Ter
NM_199293.3:c.373C>T NP_954987.2:p.Arg125Ter