Canonical Allele Identifier: CA1948005503

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166748G= , CM000673.2:g.2166748G=	GRCh38
NC_000011.9:g.2187978G= , CM000673.1:g.2187978G=	GRCh37
NC_000011.8:g.2144554G=	NCBI36
NG_008128.1:g.10058C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.862C= MANE Select	ENSP00000325951.4:p.Arg288=
ENST00000324155.8:c.*551C=	ENSP00000325831.3:n.*551C=
ENST00000333684.9:c.696-199C=	ENSP00000328814.6:n.696-199C=
ENST00000352909.7:c.862C=	ENSP00000325951.3:p.Arg288=
ENST00000381168.7:c.*582C=	ENSP00000370560.3:n.*582C=
ENST00000381175.5:c.943C=	ENSP00000370567.1:p.Arg315=
ENST00000381178.5:c.955C=	ENSP00000370571.1:p.Arg319=
ENST00000412076.1:c.136-199C=
ENST00000416223.5:c.156C=
ENST00000461172.1:n.27C=
ENST00000479437.5:n.411C=
NM_000360.3:c.862C=	NP_000351.2:p.Arg288=
NM_199292.2:c.955C=	NP_954986.2:p.Arg319=
NM_199293.2:c.943C=	NP_954987.2:p.Arg315=
XM_011520335.1:c.874C=	XP_011518637.1:p.Arg292=
XM_011520335.2:c.874C=	XP_011518637.1:p.Arg292=
NM_000360.4:c.862C= MANE Select	NP_000351.2:p.Arg288=
NM_199292.3:c.955C=	NP_954986.2:p.Arg319=
NM_199293.3:c.943C=	NP_954987.2:p.Arg315=