Canonical Allele Identifier: CA1948003672

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165340A= , CM000673.2:g.2165340A=	GRCh38
NC_000011.9:g.2186570A= , CM000673.1:g.2186570A=	GRCh37
NC_000011.8:g.2143146A=	NCBI36
NG_007114.1:g.855T=
NG_008128.1:g.11466T=
NG_050578.1:g.870T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1226T= MANE Select	ENSP00000325951.4:p.Ile409=
ENST00000324155.8:c.*915T=	ENSP00000325831.3:n.*915T=
ENST00000333684.9:c.944T=	ENSP00000328814.6:p.Ile315=
ENST00000352909.7:c.1226T=	ENSP00000325951.3:p.Ile409=
ENST00000381175.5:c.1307T=	ENSP00000370567.1:p.Ile436=
ENST00000381178.5:c.1319T=	ENSP00000370571.1:p.Ile440=
NM_000360.3:c.1226T=	NP_000351.2:p.Ile409=
NM_199292.2:c.1319T=	NP_954986.2:p.Ile440=
NM_199293.2:c.1307T=	NP_954987.2:p.Ile436=
XM_011520335.1:c.1238T=	XP_011518637.1:p.Ile413=
XM_011520335.2:c.1238T=	XP_011518637.1:p.Ile413=
NM_000360.4:c.1226T= MANE Select	NP_000351.2:p.Ile409=
NM_199292.3:c.1319T=	NP_954986.2:p.Ile440=
NM_199293.3:c.1307T=	NP_954987.2:p.Ile436=