Canonical Allele Identifier: CA1948005505

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166752C= , CM000673.2:g.2166752C=	GRCh38
NC_000011.9:g.2187982C= , CM000673.1:g.2187982C=	GRCh37
NC_000011.8:g.2144558C=	NCBI36
NG_008128.1:g.10054G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.858G= MANE Select	ENSP00000325951.4:p.Gln286=
ENST00000324155.8:c.*547G=	ENSP00000325831.3:n.*547G=
ENST00000333684.9:c.696-203G=	ENSP00000328814.6:n.696-203G=
ENST00000352909.7:c.858G=	ENSP00000325951.3:p.Gln286=
ENST00000381168.7:c.*578G=	ENSP00000370560.3:n.*578G=
ENST00000381175.5:c.939G=	ENSP00000370567.1:p.Gln313=
ENST00000381178.5:c.951G=	ENSP00000370571.1:p.Gln317=
ENST00000412076.1:c.136-203G=
ENST00000416223.5:c.152G=
ENST00000461172.1:n.23G=
ENST00000479437.5:n.407G=
NM_000360.3:c.858G=	NP_000351.2:p.Gln286=
NM_199292.2:c.951G=	NP_954986.2:p.Gln317=
NM_199293.2:c.939G=	NP_954987.2:p.Gln313=
XM_011520335.1:c.870G=	XP_011518637.1:p.Gln290=
XM_011520335.2:c.870G=	XP_011518637.1:p.Gln290=
NM_000360.4:c.858G= MANE Select	NP_000351.2:p.Gln286=
NM_199292.3:c.951G=	NP_954986.2:p.Gln317=
NM_199293.3:c.939G=	NP_954987.2:p.Gln313=