Canonical Allele Identifier: CA1434119118

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3233253G= , CM000666.2:g.3233253G=	GRCh38
NC_000004.11:g.3234980G= , CM000666.1:g.3234980G=	GRCh37
NC_000004.10:g.3204778G=	NCBI36
NG_009378.1:g.163579G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001388492.1:c.8356G= MANE Select	NP_001375421.1:p.Val2786=
ENST00000355072.11:c.8356G= MANE Select	ENSP00000347184.5:p.Val2786=
NM_002111.7:c.8362G=	NP_002102.4:p.Val2788=
NM_002111.8:c.8362G=	NP_002102.4:p.Val2788=
ENST00000355072.10:c.8356G=	ENSP00000347184.5:p.Val2786=
ENST00000355072.9:c.8356G=	ENSP00000347184.5:p.Val2786=
ENST00000510626.5:n.9484G=
ENST00000513806.1:n.320-2031G=
ENST00000680239.1:c.8098G=	ENSP00000506169.1:p.Val2700=
ENST00000680360.1:c.*1563G=	ENSP00000505014.1:n.*1563G=
ENST00000680956.1:c.8098G=	ENSP00000506029.1:p.Val2700=
ENST00000681528.1:c.8188G=	ENSP00000506116.1:p.Val2730=