Canonical Allele Identifier: CA1948005318
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2166639G= , CM000673.2:g.2166639G= GRCh38
NC_000011.9:g.2187869G= , CM000673.1:g.2187869G= GRCh37
NC_000011.8:g.2144445G= NCBI36
NG_008128.1:g.10167C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.971C= MANE Select ENSP00000325951.4:p.Pro324=
ENST00000324155.8:c.*660C= ENSP00000325831.3:n.*660C=
ENST00000333684.9:c.696-90C= ENSP00000328814.6:n.696-90C=
ENST00000352909.7:c.971C= ENSP00000325951.3:p.Pro324=
ENST00000381168.7:c.*691C= ENSP00000370560.3:n.*691C=
ENST00000381175.5:c.1052C= ENSP00000370567.1:p.Pro351=
ENST00000381178.5:c.1064C= ENSP00000370571.1:p.Pro355=
ENST00000412076.1:c.136-90C=
ENST00000416223.5:c.265C=
ENST00000461172.1:n.136C=
ENST00000479437.5:n.520C=
NM_000360.3:c.971C= NP_000351.2:p.Pro324=
NM_199292.2:c.1064C= NP_954986.2:p.Pro355=
NM_199293.2:c.1052C= NP_954987.2:p.Pro351=
XM_011520335.1:c.983C= XP_011518637.1:p.Pro328=
XM_011520335.2:c.983C= XP_011518637.1:p.Pro328=
NM_000360.4:c.971C= MANE Select NP_000351.2:p.Pro324=
NM_199292.3:c.1064C= NP_954986.2:p.Pro355=
NM_199293.3:c.1052C= NP_954987.2:p.Pro351=