Canonical Allele Identifier: CA379126166
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2166670-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166670T>C , CM000673.2:g.2166670T>C GRCh38
NC_000011.9:g.2187900T>C , CM000673.1:g.2187900T>C GRCh37
NC_000011.8:g.2144476T>C NCBI36
NG_008128.1:g.10136A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.940A>G MANE Select ENSP00000325951.4:p.Ile314Val
ENST00000324155.8:c.*629A>G ENSP00000325831.3:n.*629A>G
ENST00000333684.9:c.696-121A>G ENSP00000328814.6:n.696-121A>G
ENST00000352909.7:c.940A>G ENSP00000325951.3:p.Ile314Val
ENST00000381168.7:c.*660A>G ENSP00000370560.3:n.*660A>G
ENST00000381175.5:c.1021A>G ENSP00000370567.1:p.Ile341Val
ENST00000381178.5:c.1033A>G ENSP00000370571.1:p.Ile345Val
ENST00000412076.1:c.136-121A>G
ENST00000416223.5:c.234A>G
ENST00000461172.1:n.105A>G
ENST00000479437.5:n.489A>G
NM_000360.3:c.940A>G NP_000351.2:p.Ile314Val
NM_199292.2:c.1033A>G NP_954986.2:p.Ile345Val
NM_199293.2:c.1021A>G NP_954987.2:p.Ile341Val
XM_011520335.1:c.952A>G XP_011518637.1:p.Ile318Val
XM_011520335.2:c.952A>G XP_011518637.1:p.Ile318Val
NM_000360.4:c.940A>G MANE Select NP_000351.2:p.Ile314Val
NM_199292.3:c.1033A>G NP_954986.2:p.Ile345Val
NM_199293.3:c.1021A>G NP_954987.2:p.Ile341Val