Canonical Allele Identifier: CA1948005311

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166637C= , CM000673.2:g.2166637C=	GRCh38
NC_000011.9:g.2187867C= , CM000673.1:g.2187867C=	GRCh37
NC_000011.8:g.2144443C=	NCBI36
NG_008128.1:g.10169G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.973G= MANE Select	ENSP00000325951.4:p.Glu325=
ENST00000324155.8:c.*662G=	ENSP00000325831.3:n.*662G=
ENST00000333684.9:c.696-88G=	ENSP00000328814.6:n.696-88G=
ENST00000352909.7:c.973G=	ENSP00000325951.3:p.Glu325=
ENST00000381168.7:c.*693G=	ENSP00000370560.3:n.*693G=
ENST00000381175.5:c.1054G=	ENSP00000370567.1:p.Glu352=
ENST00000381178.5:c.1066G=	ENSP00000370571.1:p.Glu356=
ENST00000412076.1:c.136-88G=
ENST00000416223.5:c.267G=
ENST00000461172.1:n.138G=
ENST00000479437.5:n.522G=
NM_000360.3:c.973G=	NP_000351.2:p.Glu325=
NM_199292.2:c.1066G=	NP_954986.2:p.Glu356=
NM_199293.2:c.1054G=	NP_954987.2:p.Glu352=
XM_011520335.1:c.985G=	XP_011518637.1:p.Glu329=
XM_011520335.2:c.985G=	XP_011518637.1:p.Glu329=
NM_000360.4:c.973G= MANE Select	NP_000351.2:p.Glu325=
NM_199292.3:c.1066G=	NP_954986.2:p.Glu356=
NM_199293.3:c.1054G=	NP_954987.2:p.Glu352=