Canonical Allele Identifier: CA1948005151

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166544C= , CM000673.2:g.2166544C=	GRCh38
NC_000011.9:g.2187774C= , CM000673.1:g.2187774C=	GRCh37
NC_000011.8:g.2144350C=	NCBI36
NG_008128.1:g.10262G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.983G= MANE Select	NP_000351.2:p.Cys328=
ENST00000352909.8:c.983G= MANE Select	ENSP00000325951.4:p.Cys328=
NM_000360.3:c.983G=	NP_000351.2:p.Cys328=
NM_199292.2:c.1076G=	NP_954986.2:p.Cys359=
NM_199292.3:c.1076G=	NP_954986.2:p.Cys359=
NM_199293.2:c.1064G=	NP_954987.2:p.Cys355=
NM_199293.3:c.1064G=	NP_954987.2:p.Cys355=
ENST00000324155.8:c.*672G=	ENSP00000325831.3:n.*672G=
ENST00000333684.9:c.701G=	ENSP00000328814.6:p.Cys234=
ENST00000352909.7:c.983G=	ENSP00000325951.3:p.Cys328=
ENST00000381168.7:c.*703G=	ENSP00000370560.3:n.*703G=
ENST00000381175.5:c.1064G=	ENSP00000370567.1:p.Cys355=
ENST00000381178.5:c.1076G=	ENSP00000370571.1:p.Cys359=
ENST00000412076.1:c.141G=
ENST00000416223.5:c.277G=
ENST00000461172.1:n.148G=
ENST00000479437.5:n.532G=
XM_011520335.1:c.995G=	XP_011518637.1:p.Cys332=
XM_011520335.2:c.995G=	XP_011518637.1:p.Cys332=