Canonical Allele Identifier: CA1948004498

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166003G= , CM000673.2:g.2166003G=	GRCh38
NC_000011.9:g.2187233G= , CM000673.1:g.2187233G=	GRCh37
NC_000011.8:g.2143809G=	NCBI36
NG_007114.1:g.192C=
NG_008128.1:g.10803C=
NG_050578.1:g.207C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000360.4:c.1103C= MANE Select	NP_000351.2:p.Thr368=
ENST00000352909.8:c.1103C= MANE Select	ENSP00000325951.4:p.Thr368=
NM_000360.3:c.1103C=	NP_000351.2:p.Thr368=
NM_199292.2:c.1196C=	NP_954986.2:p.Thr399=
NM_199292.3:c.1196C=	NP_954986.2:p.Thr399=
NM_199293.2:c.1184C=	NP_954987.2:p.Thr395=
NM_199293.3:c.1184C=	NP_954987.2:p.Thr395=
ENST00000324155.8:c.*792C=	ENSP00000325831.3:n.*792C=
ENST00000333684.9:c.821C=	ENSP00000328814.6:p.Thr274=
ENST00000352909.7:c.1103C=	ENSP00000325951.3:p.Thr368=
ENST00000381175.5:c.1184C=	ENSP00000370567.1:p.Thr395=
ENST00000381178.5:c.1196C=	ENSP00000370571.1:p.Thr399=
ENST00000412076.1:c.261C=
ENST00000416223.5:c.397C=
ENST00000461172.1:n.689C=
ENST00000479437.5:n.652C=
XM_011520335.1:c.1115C=	XP_011518637.1:p.Thr372=
XM_011520335.2:c.1115C=	XP_011518637.1:p.Thr372=