Canonical Allele Identifier: CA1948005784

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166903G= , CM000673.2:g.2166903G=	GRCh38
NC_000011.9:g.2188133G= , CM000673.1:g.2188133G=	GRCh37
NC_000011.8:g.2144709G=	NCBI36
NG_008128.1:g.9903C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.825C= MANE Select	ENSP00000325951.4:p.Val275=
ENST00000324155.8:c.*514C=	ENSP00000325831.3:n.*514C=
ENST00000333684.9:c.696-354C=	ENSP00000328814.6:n.696-354C=
ENST00000352909.7:c.825C=	ENSP00000325951.3:p.Val275=
ENST00000381168.7:c.*545C=	ENSP00000370560.3:n.*545C=
ENST00000381175.5:c.906C=	ENSP00000370567.1:p.Val302=
ENST00000381178.5:c.918C=	ENSP00000370571.1:p.Val306=
ENST00000412076.1:c.136-354C=
ENST00000416223.5:c.136-135C=
ENST00000469226.1:n.954C=
ENST00000479437.5:n.374C=
NM_000360.3:c.825C=	NP_000351.2:p.Val275=
NM_199292.2:c.918C=	NP_954986.2:p.Val306=
NM_199293.2:c.906C=	NP_954987.2:p.Val302=
XM_011520335.1:c.837C=	XP_011518637.1:p.Val279=
XM_011520335.2:c.837C=	XP_011518637.1:p.Val279=
NM_000360.4:c.825C= MANE Select	NP_000351.2:p.Val275=
NM_199292.3:c.918C=	NP_954986.2:p.Val306=
NM_199293.3:c.906C=	NP_954987.2:p.Val302=