Canonical Allele Identifier: CA1948005898

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166959A= , CM000673.2:g.2166959A=	GRCh38
NC_000011.9:g.2188189A= , CM000673.1:g.2188189A=	GRCh37
NC_000011.8:g.2144765A=	NCBI36
NG_008128.1:g.9847T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.769T= MANE Select	ENSP00000325951.4:p.Leu257=
ENST00000324155.8:c.*458T=	ENSP00000325831.3:n.*458T=
ENST00000333684.9:c.696-410T=	ENSP00000328814.6:n.696-410T=
ENST00000352909.7:c.769T=	ENSP00000325951.3:p.Leu257=
ENST00000381168.7:c.*489T=	ENSP00000370560.3:n.*489T=
ENST00000381175.5:c.850T=	ENSP00000370567.1:p.Leu284=
ENST00000381178.5:c.862T=	ENSP00000370571.1:p.Leu288=
ENST00000412076.1:c.136-410T=
ENST00000416223.5:c.136-191T=
ENST00000469226.1:n.898T=
ENST00000479437.5:n.318T=
NM_000360.3:c.769T=	NP_000351.2:p.Leu257=
NM_199292.2:c.862T=	NP_954986.2:p.Leu288=
NM_199293.2:c.850T=	NP_954987.2:p.Leu284=
XM_011520335.1:c.781T=	XP_011518637.1:p.Leu261=
XM_011520335.2:c.781T=	XP_011518637.1:p.Leu261=
NM_000360.4:c.769T= MANE Select	NP_000351.2:p.Leu257=
NM_199292.3:c.862T=	NP_954986.2:p.Leu288=
NM_199293.3:c.850T=	NP_954987.2:p.Leu284=