Canonical Allele Identifier: CA379126417
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2166765-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166765C>A , CM000673.2:g.2166765C>A GRCh38
NC_000011.9:g.2187995C>A , CM000673.1:g.2187995C>A GRCh37
NC_000011.8:g.2144571C>A NCBI36
NG_008128.1:g.10041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.845G>T MANE Select ENSP00000325951.4:p.Arg282Leu
ENST00000324155.8:c.*534G>T ENSP00000325831.3:n.*534G>T
ENST00000333684.9:c.696-216G>T ENSP00000328814.6:n.696-216G>T
ENST00000352909.7:c.845G>T ENSP00000325951.3:p.Arg282Leu
ENST00000381168.7:c.*565G>T ENSP00000370560.3:n.*565G>T
ENST00000381175.5:c.926G>T ENSP00000370567.1:p.Arg309Leu
ENST00000381178.5:c.938G>T ENSP00000370571.1:p.Arg313Leu
ENST00000412076.1:c.136-216G>T
ENST00000416223.5:c.139G>T
ENST00000461172.1:n.10G>T
ENST00000479437.5:n.394G>T
NM_000360.3:c.845G>T NP_000351.2:p.Arg282Leu
NM_199292.2:c.938G>T NP_954986.2:p.Arg313Leu
NM_199293.2:c.926G>T NP_954987.2:p.Arg309Leu
XM_011520335.1:c.857G>T XP_011518637.1:p.Arg286Leu
XM_011520335.2:c.857G>T XP_011518637.1:p.Arg286Leu
NM_000360.4:c.845G>T MANE Select NP_000351.2:p.Arg282Leu
NM_199292.3:c.938G>T NP_954986.2:p.Arg313Leu
NM_199293.3:c.926G>T NP_954987.2:p.Arg309Leu