Canonical Allele Identifier: CA1948005752
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166884C= , CM000673.2:g.2166884C= GRCh38
NC_000011.9:g.2188114C= , CM000673.1:g.2188114C= GRCh37
NC_000011.8:g.2144690C= NCBI36
NG_008128.1:g.9922G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.841+3G= MANE Select ENSP00000325951.4:n.841+3G=
ENST00000324155.8:c.*530+3G= ENSP00000325831.3:n.*530+3G=
ENST00000333684.9:c.696-335G= ENSP00000328814.6:n.696-335G=
ENST00000352909.7:c.841+3G= ENSP00000325951.3:n.841+3G=
ENST00000381168.7:c.*561+3G= ENSP00000370560.3:n.*561+3G=
ENST00000381175.5:c.922+3G= ENSP00000370567.1:n.922+3G=
ENST00000381178.5:c.934+3G= ENSP00000370571.1:n.934+3G=
ENST00000412076.1:c.136-335G=
ENST00000416223.5:c.136-116G=
ENST00000479437.5:n.390+3G=
NM_000360.3:c.841+3G= NP_000351.2:n.841+3G=
NM_199292.2:c.934+3G= NP_954986.2:n.934+3G=
NM_199293.2:c.922+3G= NP_954987.2:n.922+3G=
XM_011520335.1:c.853+3G= XP_011518637.1:n.853+3G=
XM_011520335.2:c.853+3G= XP_011518637.1:n.853+3G=
NM_000360.4:c.841+3G= MANE Select NP_000351.2:n.841+3G=
NM_199292.3:c.934+3G= NP_954986.2:n.934+3G=
NM_199293.3:c.922+3G= NP_954987.2:n.922+3G=