Canonical Allele Identifier: CA1948005062

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166488A= , CM000673.2:g.2166488A=	GRCh38
NC_000011.9:g.2187718A= , CM000673.1:g.2187718A=	GRCh37
NC_000011.8:g.2144294A=	NCBI36
NG_008128.1:g.10318T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1039T= MANE Select	ENSP00000325951.4:p.Phe347=
ENST00000324155.8:c.*728T=	ENSP00000325831.3:n.*728T=
ENST00000333684.9:c.757T=	ENSP00000328814.6:p.Phe253=
ENST00000352909.7:c.1039T=	ENSP00000325951.3:p.Phe347=
ENST00000381168.7:c.*759T=	ENSP00000370560.3:n.*759T=
ENST00000381175.5:c.1120T=	ENSP00000370567.1:p.Phe374=
ENST00000381178.5:c.1132T=	ENSP00000370571.1:p.Phe378=
ENST00000412076.1:c.197T=
ENST00000416223.5:c.333T=
ENST00000461172.1:n.204T=
ENST00000479437.5:n.588T=
NM_000360.3:c.1039T=	NP_000351.2:p.Phe347=
NM_199292.2:c.1132T=	NP_954986.2:p.Phe378=
NM_199293.2:c.1120T=	NP_954987.2:p.Phe374=
XM_011520335.1:c.1051T=	XP_011518637.1:p.Phe351=
XM_011520335.2:c.1051T=	XP_011518637.1:p.Phe351=
NM_000360.4:c.1039T= MANE Select	NP_000351.2:p.Phe347=
NM_199292.3:c.1132T=	NP_954986.2:p.Phe378=
NM_199293.3:c.1120T=	NP_954987.2:p.Phe374=