Canonical Allele Identifier: CA278129
Gene: TH HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2165727G>T
GRCh37 chr11:g.2186957G>T
Revel Score:
ENST00000412076 0.640
ENST00000381178 0.807
ENST00000381175 0.807
ENST00000352909 (MANE Select) 0.807
ENST00000333684 0.807
gnomAD v2:
11:2186957 G / T
gnomAD v3:
11:2165727 G / T
gnomAD v4:
chr11-2165727-G-T
Joint Max Group AF 0.00000292 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000013117
ClinVar Variation:
12324
dbSNP:
121917762
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165727G>T , CM000673.2:g.2165727G>T GRCh38
NC_000011.9:g.2186957G>T , CM000673.1:g.2186957G>T GRCh37
NC_000011.8:g.2143533G>T NCBI36
NG_007114.1:g.468C>A
NG_008128.1:g.11079C>A
NG_050578.1:g.483C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.1141C>A MANE Select ENSP00000325951.4:p.Gln381Lys
ENST00000324155.8:c.*830C>A ENSP00000325831.3:n.*830C>A
ENST00000333684.9:c.859C>A ENSP00000328814.6:p.Gln287Lys
ENST00000352909.7:c.1141C>A ENSP00000325951.3:p.Gln381Lys
ENST00000381175.5:c.1222C>A ENSP00000370567.1:p.Gln408Lys
ENST00000381178.5:c.1234C>A ENSP00000370571.1:p.Gln412Lys
ENST00000412076.1:c.299C>A
ENST00000416223.5:c.435C>A
ENST00000479437.5:n.690C>A
NM_000360.3:c.1141C>A NP_000351.2:p.Gln381Lys
NM_199292.2:c.1234C>A NP_954986.2:p.Gln412Lys
NM_199293.2:c.1222C>A NP_954987.2:p.Gln408Lys
XM_011520335.1:c.1153C>A XP_011518637.1:p.Gln385Lys
XM_011520335.2:c.1153C>A XP_011518637.1:p.Gln385Lys
NM_000360.4:c.1141C>A MANE Select NP_000351.2:p.Gln381Lys
NM_199292.3:c.1234C>A NP_954986.2:p.Gln412Lys
NM_199293.3:c.1222C>A NP_954987.2:p.Gln408Lys
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