Canonical Allele Identifier: CA16605881
Gene: TH HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2166003G>A
GRCh37 chr11:g.2187233G>A
Revel Score:
ENST00000381178 0.986
ENST00000381175 0.986
ENST00000352909 (MANE Select) 0.986
ENST00000333684 0.986
gnomAD v2:
11:2187233 G / A
gnomAD v3:
11:2166003 G / A
gnomAD v4:
chr11-2166003-G-A
Joint Max Group AF 0.00000779 (EAS)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00000887 (EAS)
ClinVar RCV:
RCV000433260
RCV001782901
ClinVar Variation:
378729
dbSNP:
1057520384
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166003G>A , CM000673.2:g.2166003G>A GRCh38
NC_000011.9:g.2187233G>A , CM000673.1:g.2187233G>A GRCh37
NC_000011.8:g.2143809G>A NCBI36
NG_007114.1:g.192C>T
NG_008128.1:g.10803C>T
NG_050578.1:g.207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.1103C>T MANE Select ENSP00000325951.4:p.Thr368Met
ENST00000324155.8:c.*792C>T ENSP00000325831.3:n.*792C>T
ENST00000333684.9:c.821C>T ENSP00000328814.6:p.Thr274Met
ENST00000352909.7:c.1103C>T ENSP00000325951.3:p.Thr368Met
ENST00000381175.5:c.1184C>T ENSP00000370567.1:p.Thr395Met
ENST00000381178.5:c.1196C>T ENSP00000370571.1:p.Thr399Met
ENST00000412076.1:c.261C>T
ENST00000416223.5:c.397C>T
ENST00000461172.1:n.689C>T
ENST00000479437.5:n.652C>T
NM_000360.3:c.1103C>T NP_000351.2:p.Thr368Met
NM_199292.2:c.1196C>T NP_954986.2:p.Thr399Met
NM_199293.2:c.1184C>T NP_954987.2:p.Thr395Met
XM_011520335.1:c.1115C>T XP_011518637.1:p.Thr372Met
XM_011520335.2:c.1115C>T XP_011518637.1:p.Thr372Met
NM_000360.4:c.1103C>T MANE Select NP_000351.2:p.Thr368Met
NM_199292.3:c.1196C>T NP_954986.2:p.Thr399Met
NM_199293.3:c.1184C>T NP_954987.2:p.Thr395Met
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