Canonical Allele Identifier: CA1948005962

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166980C= , CM000673.2:g.2166980C=	GRCh38
NC_000011.9:g.2188210C= , CM000673.1:g.2188210C=	GRCh37
NC_000011.8:g.2144786C=	NCBI36
NG_008128.1:g.9826G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.748G= MANE Select	ENSP00000325951.4:p.Glu250=
ENST00000324155.8:c.*437G=	ENSP00000325831.3:n.*437G=
ENST00000333684.9:c.696-431G=	ENSP00000328814.6:n.696-431G=
ENST00000352909.7:c.748G=	ENSP00000325951.3:p.Glu250=
ENST00000381168.7:c.*468G=	ENSP00000370560.3:n.*468G=
ENST00000381175.5:c.829G=	ENSP00000370567.1:p.Glu277=
ENST00000381178.5:c.841G=	ENSP00000370571.1:p.Glu281=
ENST00000412076.1:c.136-431G=
ENST00000416223.5:c.136-212G=
ENST00000469226.1:n.877G=
ENST00000479437.5:n.297G=
NM_000360.3:c.748G=	NP_000351.2:p.Glu250=
NM_199292.2:c.841G=	NP_954986.2:p.Glu281=
NM_199293.2:c.829G=	NP_954987.2:p.Glu277=
XM_011520335.1:c.760G=	XP_011518637.1:p.Glu254=
XM_011520335.2:c.760G=	XP_011518637.1:p.Glu254=
NM_000360.4:c.748G= MANE Select	NP_000351.2:p.Glu250=
NM_199292.3:c.841G=	NP_954986.2:p.Glu281=
NM_199293.3:c.829G=	NP_954987.2:p.Glu277=