Canonical Allele Identifier: CA1948005083

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166502C= , CM000673.2:g.2166502C=	GRCh38
NC_000011.9:g.2187732C= , CM000673.1:g.2187732C=	GRCh37
NC_000011.8:g.2144308C=	NCBI36
NG_008128.1:g.10304G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1025G= MANE Select	ENSP00000325951.4:p.Arg342=
ENST00000324155.8:c.*714G=	ENSP00000325831.3:n.*714G=
ENST00000333684.9:c.743G=	ENSP00000328814.6:p.Arg248=
ENST00000352909.7:c.1025G=	ENSP00000325951.3:p.Arg342=
ENST00000381168.7:c.*745G=	ENSP00000370560.3:n.*745G=
ENST00000381175.5:c.1106G=	ENSP00000370567.1:p.Arg369=
ENST00000381178.5:c.1118G=	ENSP00000370571.1:p.Arg373=
ENST00000412076.1:c.183G=
ENST00000416223.5:c.319G=
ENST00000461172.1:n.190G=
ENST00000479437.5:n.574G=
NM_000360.3:c.1025G=	NP_000351.2:p.Arg342=
NM_199292.2:c.1118G=	NP_954986.2:p.Arg373=
NM_199293.2:c.1106G=	NP_954987.2:p.Arg369=
XM_011520335.1:c.1037G=	XP_011518637.1:p.Arg346=
XM_011520335.2:c.1037G=	XP_011518637.1:p.Arg346=
NM_000360.4:c.1025G= MANE Select	NP_000351.2:p.Arg342=
NM_199292.3:c.1118G=	NP_954986.2:p.Arg373=
NM_199293.3:c.1106G=	NP_954987.2:p.Arg369=