Canonical Allele Identifier: CA1948009622
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169760G= , CM000673.2:g.2169760G= GRCh38
NC_000011.9:g.2190990G= , CM000673.1:g.2190990G= GRCh37
NC_000011.8:g.2147566G= NCBI36
NG_008128.1:g.7046C=

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.202C= MANE Select ENSP00000325951.4:p.Leu68=
ENST00000324155.8:c.91-65C= ENSP00000325831.3:n.91-65C=
ENST00000333684.9:c.202C= ENSP00000328814.6:p.Leu68=
ENST00000352909.7:c.202C= ENSP00000325951.3:p.Leu68=
ENST00000381168.7:c.103-65C= ENSP00000370560.3:n.103-65C=
ENST00000381175.5:c.283C= ENSP00000370567.1:p.Leu95=
ENST00000381178.5:c.295C= ENSP00000370571.1:p.Leu99=
NM_000360.3:c.202C= NP_000351.2:p.Leu68=
NM_199292.2:c.295C= NP_954986.2:p.Leu99=
NM_199293.2:c.283C= NP_954987.2:p.Leu95=
XM_011520335.1:c.214C= XP_011518637.1:p.Leu72=
XM_011520335.2:c.214C= XP_011518637.1:p.Leu72=
NM_000360.4:c.202C= MANE Select NP_000351.2:p.Leu68=
NM_199292.3:c.295C= NP_954986.2:p.Leu99=
NM_199293.3:c.283C= NP_954987.2:p.Leu95=