Canonical Allele Identifier: CA1948003519
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165286_2165289delinsTACG , CM000673.2:g.2165286_2165289delinsTACG GRCh38
NC_000011.9:g.2186516_2186519delinsTACG , CM000673.1:g.2186516_2186519delinsTACG GRCh37
NC_000011.8:g.2143092_2143095delinsTACG NCBI36
NG_007114.1:g.906_909delinsCGTA
NG_008128.1:g.11517_11520delinsCGTA
NG_050578.1:g.921_924delinsCGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.1277_1280delinsCGTA MANE Select ENSP00000325951.4:p.Thr426=
ENST00000333684.9:c.995_998delinsCGTA ENSP00000328814.6:p.Thr332=
ENST00000352909.7:c.1277_1280delinsCGTA ENSP00000325951.3:p.Thr426=
ENST00000381175.5:c.1358_1361delinsCGTA ENSP00000370567.1:p.Thr453=
ENST00000381178.5:c.1370_1373delinsCGTA ENSP00000370571.1:p.Thr457=
NM_000360.3:c.1277_1280delinsCGTA NP_000351.2:p.Thr426=
NM_199292.2:c.1370_1373delinsCGTA NP_954986.2:p.Thr457=
NM_199293.2:c.1358_1361delinsCGTA NP_954987.2:p.Thr453=
XM_011520335.1:c.1289_1292delinsCGTA XP_011518637.1:p.Thr430=
XM_011520335.2:c.1289_1292delinsCGTA XP_011518637.1:p.Thr430=
NM_000360.4:c.1277_1280delinsCGTA MANE Select NP_000351.2:p.Thr426=
NM_199292.3:c.1370_1373delinsCGTA NP_954986.2:p.Thr457=
NM_199293.3:c.1358_1361delinsCGTA NP_954987.2:p.Thr453=