Canonical Allele Identifier: CA1948006133
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167054G= , CM000673.2:g.2167054G= GRCh38
NC_000011.9:g.2188284G= , CM000673.1:g.2188284G= GRCh37
NC_000011.8:g.2144860G= NCBI36
NG_008128.1:g.9752C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.696-22C= MANE Select ENSP00000325951.4:n.696-22C=
ENST00000324155.8:c.*385-22C= ENSP00000325831.3:n.*385-22C=
ENST00000333684.9:c.695+381C= ENSP00000328814.6:n.695+381C=
ENST00000352909.7:c.696-22C= ENSP00000325951.3:n.696-22C=
ENST00000381168.7:c.*416-22C= ENSP00000370560.3:n.*416-22C=
ENST00000381175.5:c.777-22C= ENSP00000370567.1:n.777-22C=
ENST00000381178.5:c.789-22C= ENSP00000370571.1:n.789-22C=
ENST00000412076.1:c.135+381C=
ENST00000416223.5:c.136-286C=
ENST00000469226.1:n.825-22C=
ENST00000479437.5:n.223C=
NM_000360.3:c.696-22C= NP_000351.2:n.696-22C=
NM_199292.2:c.789-22C= NP_954986.2:n.789-22C=
NM_199293.2:c.777-22C= NP_954987.2:n.777-22C=
XM_011520335.1:c.708-22C= XP_011518637.1:n.708-22C=
XM_011520335.2:c.708-22C= XP_011518637.1:n.708-22C=
NM_000360.4:c.696-22C= MANE Select NP_000351.2:n.696-22C=
NM_199292.3:c.789-22C= NP_954986.2:n.789-22C=
NM_199293.3:c.777-22C= NP_954987.2:n.777-22C=