Canonical Allele Identifier: CA1948005908

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166962C= , CM000673.2:g.2166962C=	GRCh38
NC_000011.9:g.2188192C= , CM000673.1:g.2188192C=	GRCh37
NC_000011.8:g.2144768C=	NCBI36
NG_008128.1:g.9844G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.766G= MANE Select	ENSP00000325951.4:p.Ala256=
ENST00000324155.8:c.*455G=	ENSP00000325831.3:n.*455G=
ENST00000333684.9:c.696-413G=	ENSP00000328814.6:n.696-413G=
ENST00000352909.7:c.766G=	ENSP00000325951.3:p.Ala256=
ENST00000381168.7:c.*486G=	ENSP00000370560.3:n.*486G=
ENST00000381175.5:c.847G=	ENSP00000370567.1:p.Ala283=
ENST00000381178.5:c.859G=	ENSP00000370571.1:p.Ala287=
ENST00000412076.1:c.136-413G=
ENST00000416223.5:c.136-194G=
ENST00000469226.1:n.895G=
ENST00000479437.5:n.315G=
NM_000360.3:c.766G=	NP_000351.2:p.Ala256=
NM_199292.2:c.859G=	NP_954986.2:p.Ala287=
NM_199293.2:c.847G=	NP_954987.2:p.Ala283=
XM_011520335.1:c.778G=	XP_011518637.1:p.Ala260=
XM_011520335.2:c.778G=	XP_011518637.1:p.Ala260=
NM_000360.4:c.766G= MANE Select	NP_000351.2:p.Ala256=
NM_199292.3:c.859G=	NP_954986.2:p.Ala287=
NM_199293.3:c.847G=	NP_954987.2:p.Ala283=