Canonical Allele Identifier: CA1948005573
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166784C= , CM000673.2:g.2166784C= GRCh38
NC_000011.9:g.2188014C= , CM000673.1:g.2188014C= GRCh37
NC_000011.8:g.2144590C= NCBI36
NG_008128.1:g.10022G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.842-16G= MANE Select ENSP00000325951.4:n.842-16G=
ENST00000324155.8:c.*531-16G= ENSP00000325831.3:n.*531-16G=
ENST00000333684.9:c.696-235G= ENSP00000328814.6:n.696-235G=
ENST00000352909.7:c.842-16G= ENSP00000325951.3:n.842-16G=
ENST00000381168.7:c.*562-16G= ENSP00000370560.3:n.*562-16G=
ENST00000381175.5:c.923-16G= ENSP00000370567.1:n.923-16G=
ENST00000381178.5:c.935-16G= ENSP00000370571.1:n.935-16G=
ENST00000412076.1:c.136-235G=
ENST00000416223.5:c.136-16G=
ENST00000479437.5:n.391-16G=
NM_000360.3:c.842-16G= NP_000351.2:n.842-16G=
NM_199292.2:c.935-16G= NP_954986.2:n.935-16G=
NM_199293.2:c.923-16G= NP_954987.2:n.923-16G=
XM_011520335.1:c.854-16G= XP_011518637.1:n.854-16G=
XM_011520335.2:c.854-16G= XP_011518637.1:n.854-16G=
NM_000360.4:c.842-16G= MANE Select NP_000351.2:n.842-16G=
NM_199292.3:c.935-16G= NP_954986.2:n.935-16G=
NM_199293.3:c.923-16G= NP_954987.2:n.923-16G=