Canonical Allele Identifier: CA1948007066
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167813C= , CM000673.2:g.2167813C= GRCh38
NC_000011.9:g.2189043C= , CM000673.1:g.2189043C= GRCh37
NC_000011.8:g.2145619C= NCBI36
NG_008128.1:g.8993G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.644+53G= MANE Select ENSP00000325951.4:n.644+53G=
ENST00000324155.8:c.*333+53G= ENSP00000325831.3:n.*333+53G=
ENST00000333684.9:c.644+53G= ENSP00000328814.6:n.644+53G=
ENST00000352909.7:c.644+53G= ENSP00000325951.3:n.644+53G=
ENST00000381168.7:c.*333+53G= ENSP00000370560.3:n.*333+53G=
ENST00000381175.5:c.725+53G= ENSP00000370567.1:n.725+53G=
ENST00000381178.5:c.737+53G= ENSP00000370571.1:n.737+53G=
ENST00000412076.1:c.84+53G=
ENST00000416223.5:c.84+53G=
ENST00000469226.1:n.446G=
NM_000360.3:c.644+53G= NP_000351.2:n.644+53G=
NM_199292.2:c.737+53G= NP_954986.2:n.737+53G=
NM_199293.2:c.725+53G= NP_954987.2:n.725+53G=
XM_011520335.1:c.656+53G= XP_011518637.1:n.656+53G=
XM_011520335.2:c.656+53G= XP_011518637.1:n.656+53G=
NM_000360.4:c.644+53G= MANE Select NP_000351.2:n.644+53G=
NM_199292.3:c.737+53G= NP_954986.2:n.737+53G=
NM_199293.3:c.725+53G= NP_954987.2:n.725+53G=