Canonical Allele Identifier: CA1948005429

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166707G= , CM000673.2:g.2166707G=	GRCh38
NC_000011.9:g.2187937G= , CM000673.1:g.2187937G=	GRCh37
NC_000011.8:g.2144513G=	NCBI36
NG_008128.1:g.10099C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.903C= MANE Select	ENSP00000325951.4:p.Ala301=
ENST00000324155.8:c.*592C=	ENSP00000325831.3:n.*592C=
ENST00000333684.9:c.696-158C=	ENSP00000328814.6:n.696-158C=
ENST00000352909.7:c.903C=	ENSP00000325951.3:p.Ala301=
ENST00000381168.7:c.*623C=	ENSP00000370560.3:n.*623C=
ENST00000381175.5:c.984C=	ENSP00000370567.1:p.Ala328=
ENST00000381178.5:c.996C=	ENSP00000370571.1:p.Ala332=
ENST00000412076.1:c.136-158C=
ENST00000416223.5:c.197C=
ENST00000461172.1:n.68C=
ENST00000479437.5:n.452C=
NM_000360.3:c.903C=	NP_000351.2:p.Ala301=
NM_199292.2:c.996C=	NP_954986.2:p.Ala332=
NM_199293.2:c.984C=	NP_954987.2:p.Ala328=
XM_011520335.1:c.915C=	XP_011518637.1:p.Ala305=
XM_011520335.2:c.915C=	XP_011518637.1:p.Ala305=
NM_000360.4:c.903C= MANE Select	NP_000351.2:p.Ala301=
NM_199292.3:c.996C=	NP_954986.2:p.Ala332=
NM_199293.3:c.984C=	NP_954987.2:p.Ala328=