Canonical Allele Identifier: CA1948006182
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167077G= , CM000673.2:g.2167077G= GRCh38
NC_000011.9:g.2188307G= , CM000673.1:g.2188307G= GRCh37
NC_000011.8:g.2144883G= NCBI36
NG_008128.1:g.9729C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.696-45C= MANE Select ENSP00000325951.4:n.696-45C=
ENST00000324155.8:c.*385-45C= ENSP00000325831.3:n.*385-45C=
ENST00000333684.9:c.695+358C= ENSP00000328814.6:n.695+358C=
ENST00000352909.7:c.696-45C= ENSP00000325951.3:n.696-45C=
ENST00000381168.7:c.*416-45C= ENSP00000370560.3:n.*416-45C=
ENST00000381175.5:c.777-45C= ENSP00000370567.1:n.777-45C=
ENST00000381178.5:c.789-45C= ENSP00000370571.1:n.789-45C=
ENST00000412076.1:c.135+358C=
ENST00000416223.5:c.136-309C=
ENST00000469226.1:n.825-45C=
ENST00000479437.5:n.200C=
NM_000360.3:c.696-45C= NP_000351.2:n.696-45C=
NM_199292.2:c.789-45C= NP_954986.2:n.789-45C=
NM_199293.2:c.777-45C= NP_954987.2:n.777-45C=
XM_011520335.1:c.708-45C= XP_011518637.1:n.708-45C=
XM_011520335.2:c.708-45C= XP_011518637.1:n.708-45C=
NM_000360.4:c.696-45C= MANE Select NP_000351.2:n.696-45C=
NM_199292.3:c.789-45C= NP_954986.2:n.789-45C=
NM_199293.3:c.777-45C= NP_954987.2:n.777-45C=