Canonical Allele Identifier: CA1948007372
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167989C= , CM000673.2:g.2167989C= GRCh38
NC_000011.9:g.2189219C= , CM000673.1:g.2189219C= GRCh37
NC_000011.8:g.2145795C= NCBI36
NG_008128.1:g.8817G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.577-56G= MANE Select ENSP00000325951.4:n.577-56G=
ENST00000324155.8:c.*266-56G= ENSP00000325831.3:n.*266-56G=
ENST00000333684.9:c.577-56G= ENSP00000328814.6:n.577-56G=
ENST00000352909.7:c.577-56G= ENSP00000325951.3:n.577-56G=
ENST00000381168.7:c.*266-56G= ENSP00000370560.3:n.*266-56G=
ENST00000381175.5:c.658-56G= ENSP00000370567.1:n.658-56G=
ENST00000381178.5:c.670-56G= ENSP00000370571.1:n.670-56G=
ENST00000412076.1:c.17-56G=
ENST00000416223.5:c.17-56G=
ENST00000469226.1:n.326-56G=
NM_000360.3:c.577-56G= NP_000351.2:n.577-56G=
NM_199292.2:c.670-56G= NP_954986.2:n.670-56G=
NM_199293.2:c.658-56G= NP_954987.2:n.658-56G=
XM_011520335.1:c.589-56G= XP_011518637.1:n.589-56G=
XM_011520335.2:c.589-56G= XP_011518637.1:n.589-56G=
NM_000360.4:c.577-56G= MANE Select NP_000351.2:n.577-56G=
NM_199292.3:c.670-56G= NP_954986.2:n.670-56G=
NM_199293.3:c.658-56G= NP_954987.2:n.658-56G=