Canonical Allele Identifier: CA1948009610
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169758C= , CM000673.2:g.2169758C= GRCh38
NC_000011.9:g.2190988C= , CM000673.1:g.2190988C= GRCh37
NC_000011.8:g.2147564C= NCBI36
NG_008128.1:g.7048G=

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.204G= MANE Select ENSP00000325951.4:p.Leu68=
ENST00000324155.8:c.91-63G= ENSP00000325831.3:n.91-63G=
ENST00000333684.9:c.204G= ENSP00000328814.6:p.Leu68=
ENST00000352909.7:c.204G= ENSP00000325951.3:p.Leu68=
ENST00000381168.7:c.103-63G= ENSP00000370560.3:n.103-63G=
ENST00000381175.5:c.285G= ENSP00000370567.1:p.Leu95=
ENST00000381178.5:c.297G= ENSP00000370571.1:p.Leu99=
NM_000360.3:c.204G= NP_000351.2:p.Leu68=
NM_199292.2:c.297G= NP_954986.2:p.Leu99=
NM_199293.2:c.285G= NP_954987.2:p.Leu95=
XM_011520335.1:c.216G= XP_011518637.1:p.Leu72=
XM_011520335.2:c.216G= XP_011518637.1:p.Leu72=
NM_000360.4:c.204G= MANE Select NP_000351.2:p.Leu68=
NM_199292.3:c.297G= NP_954986.2:p.Leu99=
NM_199293.3:c.285G= NP_954987.2:p.Leu95=