Canonical Allele Identifier: CA1948005865

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166939G= , CM000673.2:g.2166939G=	GRCh38
NC_000011.9:g.2188169G= , CM000673.1:g.2188169G=	GRCh37
NC_000011.8:g.2144745G=	NCBI36
NG_008128.1:g.9867C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.789C= MANE Select	ENSP00000325951.4:p.Gly263=
ENST00000324155.8:c.*478C=	ENSP00000325831.3:n.*478C=
ENST00000333684.9:c.696-390C=	ENSP00000328814.6:n.696-390C=
ENST00000352909.7:c.789C=	ENSP00000325951.3:p.Gly263=
ENST00000381168.7:c.*509C=	ENSP00000370560.3:n.*509C=
ENST00000381175.5:c.870C=	ENSP00000370567.1:p.Gly290=
ENST00000381178.5:c.882C=	ENSP00000370571.1:p.Gly294=
ENST00000412076.1:c.136-390C=
ENST00000416223.5:c.136-171C=
ENST00000469226.1:n.918C=
ENST00000479437.5:n.338C=
NM_000360.3:c.789C=	NP_000351.2:p.Gly263=
NM_199292.2:c.882C=	NP_954986.2:p.Gly294=
NM_199293.2:c.870C=	NP_954987.2:p.Gly290=
XM_011520335.1:c.801C=	XP_011518637.1:p.Gly267=
XM_011520335.2:c.801C=	XP_011518637.1:p.Gly267=
NM_000360.4:c.789C= MANE Select	NP_000351.2:p.Gly263=
NM_199292.3:c.882C=	NP_954986.2:p.Gly294=
NM_199293.3:c.870C=	NP_954987.2:p.Gly290=