Canonical Allele Identifier: CA1948005079

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166498G= , CM000673.2:g.2166498G=	GRCh38
NC_000011.9:g.2187728G= , CM000673.1:g.2187728G=	GRCh37
NC_000011.8:g.2144304G=	NCBI36
NG_008128.1:g.10308C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1029C= MANE Select	ENSP00000325951.4:p.Thr343=
ENST00000324155.8:c.*718C=	ENSP00000325831.3:n.*718C=
ENST00000333684.9:c.747C=	ENSP00000328814.6:p.Thr249=
ENST00000352909.7:c.1029C=	ENSP00000325951.3:p.Thr343=
ENST00000381168.7:c.*749C=	ENSP00000370560.3:n.*749C=
ENST00000381175.5:c.1110C=	ENSP00000370567.1:p.Thr370=
ENST00000381178.5:c.1122C=	ENSP00000370571.1:p.Thr374=
ENST00000412076.1:c.187C=
ENST00000416223.5:c.323C=
ENST00000461172.1:n.194C=
ENST00000479437.5:n.578C=
NM_000360.3:c.1029C=	NP_000351.2:p.Thr343=
NM_199292.2:c.1122C=	NP_954986.2:p.Thr374=
NM_199293.2:c.1110C=	NP_954987.2:p.Thr370=
XM_011520335.1:c.1041C=	XP_011518637.1:p.Thr347=
XM_011520335.2:c.1041C=	XP_011518637.1:p.Thr347=
NM_000360.4:c.1029C= MANE Select	NP_000351.2:p.Thr343=
NM_199292.3:c.1122C=	NP_954986.2:p.Thr374=
NM_199293.3:c.1110C=	NP_954987.2:p.Thr370=