Canonical Allele Identifier: CA379128003
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 553311
ClinVar RCV Id: RCV000668727
dbSNP Id: rs1260455415
gnomAD v4: 11-2167882-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167882C>T , CM000673.2:g.2167882C>T GRCh38
NC_000011.9:g.2189112C>T , CM000673.1:g.2189112C>T GRCh37
NC_000011.8:g.2145688C>T NCBI36
NG_008128.1:g.8924G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.628G>A MANE Select ENSP00000325951.4:p.Ala210Thr
ENST00000324155.8:c.*317G>A ENSP00000325831.3:n.*317G>A
ENST00000333684.9:c.628G>A ENSP00000328814.6:p.Ala210Thr
ENST00000352909.7:c.628G>A ENSP00000325951.3:p.Ala210Thr
ENST00000381168.7:c.*317G>A ENSP00000370560.3:n.*317G>A
ENST00000381175.5:c.709G>A ENSP00000370567.1:p.Ala237Thr
ENST00000381178.5:c.721G>A ENSP00000370571.1:p.Ala241Thr
ENST00000412076.1:c.68G>A
ENST00000416223.5:c.68G>A
ENST00000469226.1:n.377G>A
NM_000360.3:c.628G>A NP_000351.2:p.Ala210Thr
NM_199292.2:c.721G>A NP_954986.2:p.Ala241Thr
NM_199293.2:c.709G>A NP_954987.2:p.Ala237Thr
XM_011520335.1:c.640G>A XP_011518637.1:p.Ala214Thr
XM_011520335.2:c.640G>A XP_011518637.1:p.Ala214Thr
NM_000360.4:c.628G>A MANE Select NP_000351.2:p.Ala210Thr
NM_199292.3:c.721G>A NP_954986.2:p.Ala241Thr
NM_199293.3:c.709G>A NP_954987.2:p.Ala237Thr