Canonical Allele Identifier: CA5818884
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 2198102
ClinVar RCV Id: RCV002629128
dbSNP Id: rs780983082
gnomAD v2: 11-2192992-G-A
gnomAD v3: 11-2171762-G-A
gnomAD v4: 11-2171762-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171762G>A , CM000673.2:g.2171762G>A GRCh38
NC_000011.9:g.2192992G>A , CM000673.1:g.2192992G>A GRCh37
NC_000011.8:g.2149568G>A NCBI36
NG_008128.1:g.5044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.25C>T MANE Select ENSP00000325951.4:p.Pro9Ser
ENST00000324155.8:c.25C>T ENSP00000325831.3:p.Pro9Ser
ENST00000333684.9:c.25C>T ENSP00000328814.6:p.Pro9Ser
ENST00000352909.7:c.25C>T ENSP00000325951.3:p.Pro9Ser
ENST00000381168.7:c.25C>T ENSP00000370560.3:p.Pro9Ser
ENST00000381175.5:c.25C>T ENSP00000370567.1:p.Pro9Ser
ENST00000381178.5:c.25C>T ENSP00000370571.1:p.Pro9Ser
NM_000360.3:c.25C>T NP_000351.2:p.Pro9Ser
NM_199292.2:c.25C>T NP_954986.2:p.Pro9Ser
NM_199293.2:c.25C>T NP_954987.2:p.Pro9Ser
XM_011520335.1:c.25C>T XP_011518637.1:p.Pro9Ser
XM_011520335.2:c.25C>T XP_011518637.1:p.Pro9Ser
NM_000360.4:c.25C>T MANE Select NP_000351.2:p.Pro9Ser
NM_199292.3:c.25C>T NP_954986.2:p.Pro9Ser
NM_199293.3:c.25C>T NP_954987.2:p.Pro9Ser