Canonical Allele Identifier: CA1948005085

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166503G= , CM000673.2:g.2166503G=	GRCh38
NC_000011.9:g.2187733G= , CM000673.1:g.2187733G=	GRCh37
NC_000011.8:g.2144309G=	NCBI36
NG_008128.1:g.10303C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1024C= MANE Select	ENSP00000325951.4:p.Arg342=
ENST00000324155.8:c.*713C=	ENSP00000325831.3:n.*713C=
ENST00000333684.9:c.742C=	ENSP00000328814.6:p.Arg248=
ENST00000352909.7:c.1024C=	ENSP00000325951.3:p.Arg342=
ENST00000381168.7:c.*744C=	ENSP00000370560.3:n.*744C=
ENST00000381175.5:c.1105C=	ENSP00000370567.1:p.Arg369=
ENST00000381178.5:c.1117C=	ENSP00000370571.1:p.Arg373=
ENST00000412076.1:c.182C=
ENST00000416223.5:c.318C=
ENST00000461172.1:n.189C=
ENST00000479437.5:n.573C=
NM_000360.3:c.1024C=	NP_000351.2:p.Arg342=
NM_199292.2:c.1117C=	NP_954986.2:p.Arg373=
NM_199293.2:c.1105C=	NP_954987.2:p.Arg369=
XM_011520335.1:c.1036C=	XP_011518637.1:p.Arg346=
XM_011520335.2:c.1036C=	XP_011518637.1:p.Arg346=
NM_000360.4:c.1024C= MANE Select	NP_000351.2:p.Arg342=
NM_199292.3:c.1117C=	NP_954986.2:p.Arg373=
NM_199293.3:c.1105C=	NP_954987.2:p.Arg369=