Canonical Allele Identifier: CA5818876
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 2683131
ClinVar RCV Id: RCV003481998
dbSNP Id: rs776878220
gnomAD v2: 11-2192965-C-T
gnomAD v3: 11-2171735-C-T
gnomAD v4: 11-2171735-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171735C>T , CM000673.2:g.2171735C>T GRCh38
NC_000011.9:g.2192965C>T , CM000673.1:g.2192965C>T GRCh37
NC_000011.8:g.2149541C>T NCBI36
NG_008128.1:g.5071G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.52G>A MANE Select ENSP00000325951.4:p.Val18Met
ENST00000324155.8:c.52G>A ENSP00000325831.3:p.Val18Met
ENST00000333684.9:c.52G>A ENSP00000328814.6:p.Val18Met
ENST00000352909.7:c.52G>A ENSP00000325951.3:p.Val18Met
ENST00000381168.7:c.52G>A ENSP00000370560.3:p.Val18Met
ENST00000381175.5:c.52G>A ENSP00000370567.1:p.Val18Met
ENST00000381178.5:c.52G>A ENSP00000370571.1:p.Val18Met
NM_000360.3:c.52G>A NP_000351.2:p.Val18Met
NM_199292.2:c.52G>A NP_954986.2:p.Val18Met
NM_199293.2:c.52G>A NP_954987.2:p.Val18Met
XM_011520335.1:c.52G>A XP_011518637.1:p.Val18Met
XM_011520335.2:c.52G>A XP_011518637.1:p.Val18Met
NM_000360.4:c.52G>A MANE Select NP_000351.2:p.Val18Met
NM_199292.3:c.52G>A NP_954986.2:p.Val18Met
NM_199293.3:c.52G>A NP_954987.2:p.Val18Met