Canonical Allele Identifier: CA3183114500

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166530G= , CM000673.2:g.2166530G=	GRCh38
NC_000011.9:g.2187760G= , CM000673.1:g.2187760G=	GRCh37
NC_000011.8:g.2144336G=	NCBI36
NG_008128.1:g.10276C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.997C= MANE Select	NP_000351.2:p.Leu333=
ENST00000352909.8:c.997C= MANE Select	ENSP00000325951.4:p.Leu333=
NM_000360.3:c.997C=	NP_000351.2:p.Leu333=
NM_199292.2:c.1090C=	NP_954986.2:p.Leu364=
NM_199292.3:c.1090C=	NP_954986.2:p.Leu364=
NM_199293.2:c.1078C=	NP_954987.2:p.Leu360=
NM_199293.3:c.1078C=	NP_954987.2:p.Leu360=
ENST00000324155.8:c.*686C=	ENSP00000325831.3:n.*686C=
ENST00000333684.9:c.715C=	ENSP00000328814.6:p.Leu239=
ENST00000352909.7:c.997C=	ENSP00000325951.3:p.Leu333=
ENST00000381168.7:c.*717C=	ENSP00000370560.3:n.*717C=
ENST00000381175.5:c.1078C=	ENSP00000370567.1:p.Leu360=
ENST00000381178.5:c.1090C=	ENSP00000370571.1:p.Leu364=
ENST00000412076.1:c.155C=
ENST00000416223.5:c.291C=
ENST00000461172.1:n.162C=
ENST00000479437.5:n.546C=
XM_011520335.1:c.1009C=	XP_011518637.1:p.Leu337=
XM_011520335.2:c.1009C=	XP_011518637.1:p.Leu337=