Canonical Allele Identifier: CA1948005501

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166747C= , CM000673.2:g.2166747C=	GRCh38
NC_000011.9:g.2187977C= , CM000673.1:g.2187977C=	GRCh37
NC_000011.8:g.2144553C=	NCBI36
NG_008128.1:g.10059G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.863G= MANE Select	ENSP00000325951.4:p.Arg288=
ENST00000324155.8:c.*552G=	ENSP00000325831.3:n.*552G=
ENST00000333684.9:c.696-198G=	ENSP00000328814.6:n.696-198G=
ENST00000352909.7:c.863G=	ENSP00000325951.3:p.Arg288=
ENST00000381168.7:c.*583G=	ENSP00000370560.3:n.*583G=
ENST00000381175.5:c.944G=	ENSP00000370567.1:p.Arg315=
ENST00000381178.5:c.956G=	ENSP00000370571.1:p.Arg319=
ENST00000412076.1:c.136-198G=
ENST00000416223.5:c.157G=
ENST00000461172.1:n.28G=
ENST00000479437.5:n.412G=
NM_000360.3:c.863G=	NP_000351.2:p.Arg288=
NM_199292.2:c.956G=	NP_954986.2:p.Arg319=
NM_199293.2:c.944G=	NP_954987.2:p.Arg315=
XM_011520335.1:c.875G=	XP_011518637.1:p.Arg292=
XM_011520335.2:c.875G=	XP_011518637.1:p.Arg292=
NM_000360.4:c.863G= MANE Select	NP_000351.2:p.Arg288=
NM_199292.3:c.956G=	NP_954986.2:p.Arg319=
NM_199293.3:c.944G=	NP_954987.2:p.Arg315=