Canonical Allele Identifier: CA1948005839

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166930T= , CM000673.2:g.2166930T=	GRCh38
NC_000011.9:g.2188160T= , CM000673.1:g.2188160T=	GRCh37
NC_000011.8:g.2144736T=	NCBI36
NG_008128.1:g.9876A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.798A= MANE Select	ENSP00000325951.4:p.Glu266=
ENST00000324155.8:c.*487A=	ENSP00000325831.3:n.*487A=
ENST00000333684.9:c.696-381A=	ENSP00000328814.6:n.696-381A=
ENST00000352909.7:c.798A=	ENSP00000325951.3:p.Glu266=
ENST00000381168.7:c.*518A=	ENSP00000370560.3:n.*518A=
ENST00000381175.5:c.879A=	ENSP00000370567.1:p.Glu293=
ENST00000381178.5:c.891A=	ENSP00000370571.1:p.Glu297=
ENST00000412076.1:c.136-381A=
ENST00000416223.5:c.136-162A=
ENST00000469226.1:n.927A=
ENST00000479437.5:n.347A=
NM_000360.3:c.798A=	NP_000351.2:p.Glu266=
NM_199292.2:c.891A=	NP_954986.2:p.Glu297=
NM_199293.2:c.879A=	NP_954987.2:p.Glu293=
XM_011520335.1:c.810A=	XP_011518637.1:p.Glu270=
XM_011520335.2:c.810A=	XP_011518637.1:p.Glu270=
NM_000360.4:c.798A= MANE Select	NP_000351.2:p.Glu266=
NM_199292.3:c.891A=	NP_954986.2:p.Glu297=
NM_199293.3:c.879A=	NP_954987.2:p.Glu293=