Canonical Allele Identifier: CA1948005118

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166529A= , CM000673.2:g.2166529A=	GRCh38
NC_000011.9:g.2187759A= , CM000673.1:g.2187759A=	GRCh37
NC_000011.8:g.2144335A=	NCBI36
NG_008128.1:g.10277T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.998T= MANE Select	ENSP00000325951.4:p.Leu333=
ENST00000324155.8:c.*687T=	ENSP00000325831.3:n.*687T=
ENST00000333684.9:c.716T=	ENSP00000328814.6:p.Leu239=
ENST00000352909.7:c.998T=	ENSP00000325951.3:p.Leu333=
ENST00000381168.7:c.*718T=	ENSP00000370560.3:n.*718T=
ENST00000381175.5:c.1079T=	ENSP00000370567.1:p.Leu360=
ENST00000381178.5:c.1091T=	ENSP00000370571.1:p.Leu364=
ENST00000412076.1:c.156T=
ENST00000416223.5:c.292T=
ENST00000461172.1:n.163T=
ENST00000479437.5:n.547T=
NM_000360.3:c.998T=	NP_000351.2:p.Leu333=
NM_199292.2:c.1091T=	NP_954986.2:p.Leu364=
NM_199293.2:c.1079T=	NP_954987.2:p.Leu360=
XM_011520335.1:c.1010T=	XP_011518637.1:p.Leu337=
XM_011520335.2:c.1010T=	XP_011518637.1:p.Leu337=
NM_000360.4:c.998T= MANE Select	NP_000351.2:p.Leu333=
NM_199292.3:c.1091T=	NP_954986.2:p.Leu364=
NM_199293.3:c.1079T=	NP_954987.2:p.Leu360=