Canonical Allele Identifier: CA1948007174

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167869C= , CM000673.2:g.2167869C=	GRCh38
NC_000011.9:g.2189099C= , CM000673.1:g.2189099C=	GRCh37
NC_000011.8:g.2145675C=	NCBI36
NG_008128.1:g.8937G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.641G= MANE Select	ENSP00000325951.4:p.Arg214=
ENST00000324155.8:c.*330G=	ENSP00000325831.3:n.*330G=
ENST00000333684.9:c.641G=	ENSP00000328814.6:p.Arg214=
ENST00000352909.7:c.641G=	ENSP00000325951.3:p.Arg214=
ENST00000381168.7:c.*330G=	ENSP00000370560.3:n.*330G=
ENST00000381175.5:c.722G=	ENSP00000370567.1:p.Arg241=
ENST00000381178.5:c.734G=	ENSP00000370571.1:p.Arg245=
ENST00000412076.1:c.81G=
ENST00000416223.5:c.81G=
ENST00000469226.1:n.390G=
NM_000360.3:c.641G=	NP_000351.2:p.Arg214=
NM_199292.2:c.734G=	NP_954986.2:p.Arg245=
NM_199293.2:c.722G=	NP_954987.2:p.Arg241=
XM_011520335.1:c.653G=	XP_011518637.1:p.Arg218=
XM_011520335.2:c.653G=	XP_011518637.1:p.Arg218=
NM_000360.4:c.641G= MANE Select	NP_000351.2:p.Arg214=
NM_199292.3:c.734G=	NP_954986.2:p.Arg245=
NM_199293.3:c.722G=	NP_954987.2:p.Arg241=