Canonical Allele Identifier: CA1948003529
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165289G= , CM000673.2:g.2165289G= GRCh38
NC_000011.9:g.2186519G= , CM000673.1:g.2186519G= GRCh37
NC_000011.8:g.2143095G= NCBI36
NG_007114.1:g.906C=
NG_008128.1:g.11517C=
NG_050578.1:g.921C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.1277C= MANE Select ENSP00000325951.4:p.Thr426=
ENST00000333684.9:c.995C= ENSP00000328814.6:p.Thr332=
ENST00000352909.7:c.1277C= ENSP00000325951.3:p.Thr426=
ENST00000381175.5:c.1358C= ENSP00000370567.1:p.Thr453=
ENST00000381178.5:c.1370C= ENSP00000370571.1:p.Thr457=
NM_000360.3:c.1277C= NP_000351.2:p.Thr426=
NM_199292.2:c.1370C= NP_954986.2:p.Thr457=
NM_199293.2:c.1358C= NP_954987.2:p.Thr453=
XM_011520335.1:c.1289C= XP_011518637.1:p.Thr430=
XM_011520335.2:c.1289C= XP_011518637.1:p.Thr430=
NM_000360.4:c.1277C= MANE Select NP_000351.2:p.Thr426=
NM_199292.3:c.1370C= NP_954986.2:p.Thr457=
NM_199293.3:c.1358C= NP_954987.2:p.Thr453=