Canonical Allele Identifier: CA1948005876

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166949C= , CM000673.2:g.2166949C=	GRCh38
NC_000011.9:g.2188179C= , CM000673.1:g.2188179C=	GRCh37
NC_000011.8:g.2144755C=	NCBI36
NG_008128.1:g.9857G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.779G= MANE Select	ENSP00000325951.4:p.Arg260=
ENST00000324155.8:c.*468G=	ENSP00000325831.3:n.*468G=
ENST00000333684.9:c.696-400G=	ENSP00000328814.6:n.696-400G=
ENST00000352909.7:c.779G=	ENSP00000325951.3:p.Arg260=
ENST00000381168.7:c.*499G=	ENSP00000370560.3:n.*499G=
ENST00000381175.5:c.860G=	ENSP00000370567.1:p.Arg287=
ENST00000381178.5:c.872G=	ENSP00000370571.1:p.Arg291=
ENST00000412076.1:c.136-400G=
ENST00000416223.5:c.136-181G=
ENST00000469226.1:n.908G=
ENST00000479437.5:n.328G=
NM_000360.3:c.779G=	NP_000351.2:p.Arg260=
NM_199292.2:c.872G=	NP_954986.2:p.Arg291=
NM_199293.2:c.860G=	NP_954987.2:p.Arg287=
XM_011520335.1:c.791G=	XP_011518637.1:p.Arg264=
XM_011520335.2:c.791G=	XP_011518637.1:p.Arg264=
NM_000360.4:c.779G= MANE Select	NP_000351.2:p.Arg260=
NM_199292.3:c.872G=	NP_954986.2:p.Arg291=
NM_199293.3:c.860G=	NP_954987.2:p.Arg287=