Canonical Allele Identifier: CA1948005077

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166495G= , CM000673.2:g.2166495G=	GRCh38
NC_000011.9:g.2187725G= , CM000673.1:g.2187725G=	GRCh37
NC_000011.8:g.2144301G=	NCBI36
NG_008128.1:g.10311C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1032C= MANE Select	ENSP00000325951.4:p.Phe344=
ENST00000324155.8:c.*721C=	ENSP00000325831.3:n.*721C=
ENST00000333684.9:c.750C=	ENSP00000328814.6:p.Phe250=
ENST00000352909.7:c.1032C=	ENSP00000325951.3:p.Phe344=
ENST00000381168.7:c.*752C=	ENSP00000370560.3:n.*752C=
ENST00000381175.5:c.1113C=	ENSP00000370567.1:p.Phe371=
ENST00000381178.5:c.1125C=	ENSP00000370571.1:p.Phe375=
ENST00000412076.1:c.190C=
ENST00000416223.5:c.326C=
ENST00000461172.1:n.197C=
ENST00000479437.5:n.581C=
NM_000360.3:c.1032C=	NP_000351.2:p.Phe344=
NM_199292.2:c.1125C=	NP_954986.2:p.Phe375=
NM_199293.2:c.1113C=	NP_954987.2:p.Phe371=
XM_011520335.1:c.1044C=	XP_011518637.1:p.Phe348=
XM_011520335.2:c.1044C=	XP_011518637.1:p.Phe348=
NM_000360.4:c.1032C= MANE Select	NP_000351.2:p.Phe344=
NM_199292.3:c.1125C=	NP_954986.2:p.Phe375=
NM_199293.3:c.1113C=	NP_954987.2:p.Phe371=