Canonical Allele Identifier: CA342583
Gene: TH HGNC NCBI
COSMIC:
COSM3752294 (not active)
MyVariant.info:
GRCh38 chr11:g.2169721C>T
GRCh37 chr11:g.2190951C>T
Revel Score:
ENST00000381178 0.176
ENST00000381175 0.176
ENST00000352909 (MANE Select) 0.176
ENST00000333684 0.176
gnomAD v2:
11:2190951 C / T
gnomAD v3:
11:2169721 C / T
gnomAD v4:
chr11-2169721-C-T
Joint Max Group AF 0.7408762 (EAS)
Genomes Max Group AF 0.76949626 (EAS)
Exomes Max Group AF 0.73501743 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169721C>T , CM000673.2:g.2169721C>T GRCh38
NC_000011.9:g.2190951C>T , CM000673.1:g.2190951C>T GRCh37
NC_000011.8:g.2147527C>T NCBI36
NG_008128.1:g.7085G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.241G>A MANE Select ENSP00000325951.4:p.Val81Met
ENST00000324155.8:c.91-26G>A ENSP00000325831.3:n.91-26G>A
ENST00000333684.9:c.241G>A ENSP00000328814.6:p.Val81Met
ENST00000352909.7:c.241G>A ENSP00000325951.3:p.Val81Met
ENST00000381168.7:c.103-26G>A ENSP00000370560.3:n.103-26G>A
ENST00000381175.5:c.322G>A ENSP00000370567.1:p.Val108Met
ENST00000381178.5:c.334G>A ENSP00000370571.1:p.Val112Met
NM_000360.3:c.241G>A NP_000351.2:p.Val81Met
NM_199292.2:c.334G>A NP_954986.2:p.Val112Met
NM_199293.2:c.322G>A NP_954987.2:p.Val108Met
XM_011520335.1:c.253G>A XP_011518637.1:p.Val85Met
XM_011520335.2:c.253G>A XP_011518637.1:p.Val85Met
NM_000360.4:c.241G>A MANE Select NP_000351.2:p.Val81Met
NM_199292.3:c.334G>A NP_954986.2:p.Val112Met
NM_199293.3:c.322G>A NP_954987.2:p.Val108Met
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