Canonical Allele Identifier: CA1948005967
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166983C= , CM000673.2:g.2166983C= GRCh38
NC_000011.9:g.2188213C= , CM000673.1:g.2188213C= GRCh37
NC_000011.8:g.2144789C= NCBI36
NG_008128.1:g.9823G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.745G= MANE Select ENSP00000325951.4:p.Gly249=
ENST00000324155.8:c.*434G= ENSP00000325831.3:n.*434G=
ENST00000333684.9:c.696-434G= ENSP00000328814.6:n.696-434G=
ENST00000352909.7:c.745G= ENSP00000325951.3:p.Gly249=
ENST00000381168.7:c.*465G= ENSP00000370560.3:n.*465G=
ENST00000381175.5:c.826G= ENSP00000370567.1:p.Gly276=
ENST00000381178.5:c.838G= ENSP00000370571.1:p.Gly280=
ENST00000412076.1:c.136-434G=
ENST00000416223.5:c.136-215G=
ENST00000469226.1:n.874G=
ENST00000479437.5:n.294G=
NM_000360.3:c.745G= NP_000351.2:p.Gly249=
NM_199292.2:c.838G= NP_954986.2:p.Gly280=
NM_199293.2:c.826G= NP_954987.2:p.Gly276=
XM_011520335.1:c.757G= XP_011518637.1:p.Gly253=
XM_011520335.2:c.757G= XP_011518637.1:p.Gly253=
NM_000360.4:c.745G= MANE Select NP_000351.2:p.Gly249=
NM_199292.3:c.838G= NP_954986.2:p.Gly280=
NM_199293.3:c.826G= NP_954987.2:p.Gly276=