Canonical Allele Identifier: CA2825672

Gene: HTT

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001388492.1:c.8356G>A MANE Select	NP_001375421.1:p.Val2786Ile
ENST00000355072.11:c.8356G>A MANE Select	ENSP00000347184.5:p.Val2786Ile
NM_002111.7:c.8362G>A	NP_002102.4:p.Val2788Ile
NM_002111.8:c.8362G>A	NP_002102.4:p.Val2788Ile
ENST00000355072.10:c.8356G>A	ENSP00000347184.5:p.Val2786Ile
ENST00000355072.9:c.8356G>A	ENSP00000347184.5:p.Val2786Ile
ENST00000510626.5:n.9484G>A
ENST00000513806.1:n.320-2031G>A
ENST00000680239.1:c.8098G>A	ENSP00000506169.1:p.Val2700Ile
ENST00000680360.1:c.*1563G>A	ENSP00000505014.1:n.*1563G>A
ENST00000680956.1:c.8098G>A	ENSP00000506029.1:p.Val2700Ile
ENST00000681528.1:c.8188G>A	ENSP00000506116.1:p.Val2730Ile