Canonical Allele Identifier: CA1948005853

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166934C= , CM000673.2:g.2166934C=	GRCh38
NC_000011.9:g.2188164C= , CM000673.1:g.2188164C=	GRCh37
NC_000011.8:g.2144740C=	NCBI36
NG_008128.1:g.9872G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.794G= MANE Select	ENSP00000325951.4:p.Arg265=
ENST00000324155.8:c.*483G=	ENSP00000325831.3:n.*483G=
ENST00000333684.9:c.696-385G=	ENSP00000328814.6:n.696-385G=
ENST00000352909.7:c.794G=	ENSP00000325951.3:p.Arg265=
ENST00000381168.7:c.*514G=	ENSP00000370560.3:n.*514G=
ENST00000381175.5:c.875G=	ENSP00000370567.1:p.Arg292=
ENST00000381178.5:c.887G=	ENSP00000370571.1:p.Arg296=
ENST00000412076.1:c.136-385G=
ENST00000416223.5:c.136-166G=
ENST00000469226.1:n.923G=
ENST00000479437.5:n.343G=
NM_000360.3:c.794G=	NP_000351.2:p.Arg265=
NM_199292.2:c.887G=	NP_954986.2:p.Arg296=
NM_199293.2:c.875G=	NP_954987.2:p.Arg292=
XM_011520335.1:c.806G=	XP_011518637.1:p.Arg269=
XM_011520335.2:c.806G=	XP_011518637.1:p.Arg269=
NM_000360.4:c.794G= MANE Select	NP_000351.2:p.Arg265=
NM_199292.3:c.887G=	NP_954986.2:p.Arg296=
NM_199293.3:c.875G=	NP_954987.2:p.Arg292=