Canonical Allele Identifier: CA1948003334
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165182G= , CM000673.2:g.2165182G= GRCh38
NC_000011.9:g.2186412G= , CM000673.1:g.2186412G= GRCh37
NC_000011.8:g.2142988G= NCBI36
NG_007114.1:g.1013C=
NG_008128.1:g.11624C=
NG_050578.1:g.1028C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.1334+50C= MANE Select ENSP00000325951.4:n.1334+50C=
ENST00000333684.9:c.1052+50C= ENSP00000328814.6:n.1052+50C=
ENST00000352909.7:c.1334+50C= ENSP00000325951.3:n.1334+50C=
ENST00000381175.5:c.1415+50C= ENSP00000370567.1:n.1415+50C=
ENST00000381178.5:c.1427+50C= ENSP00000370571.1:n.1427+50C=
NM_000360.3:c.1334+50C= NP_000351.2:n.1334+50C=
NM_199292.2:c.1427+50C= NP_954986.2:n.1427+50C=
NM_199293.2:c.1415+50C= NP_954987.2:n.1415+50C=
XM_011520335.1:c.1346+50C= XP_011518637.1:n.1346+50C=
XM_011520335.2:c.1346+50C= XP_011518637.1:n.1346+50C=
NM_000360.4:c.1334+50C= MANE Select NP_000351.2:n.1334+50C=
NM_199292.3:c.1427+50C= NP_954986.2:n.1427+50C=
NM_199293.3:c.1415+50C= NP_954987.2:n.1415+50C=