Canonical Allele Identifier: CA1434095846

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3184020T= , CM000666.2:g.3184020T=	GRCh38
NC_000004.11:g.3185747T= , CM000666.1:g.3185747T=	GRCh37
NC_000004.10:g.3155545T=	NCBI36
NG_009378.1:g.114346T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355072.11:c.4866+1550T= MANE Select	ENSP00000347184.5:n.4866+1550T=
ENST00000355072.10:c.4866+1550T=	ENSP00000347184.5:n.4866+1550T=
ENST00000680239.1:c.4608+1550T=	ENSP00000506169.1:n.4608+1550T=
ENST00000680291.1:n.4963+1550T=
ENST00000680360.1:c.4608+1550T=	ENSP00000505014.1:n.4608+1550T=
ENST00000680956.1:c.4608+1550T=	ENSP00000506029.1:n.4608+1550T=
ENST00000681528.1:c.4608+1550T=	ENSP00000506116.1:n.4608+1550T=
ENST00000355072.9:c.4866+1550T=	ENSP00000347184.5:n.4866+1550T=
ENST00000510626.5:n.4965+1550T=
NM_002111.7:c.4872+1550T=	NP_002102.4:n.4872+1550T=
NM_002111.8:c.4872+1550T=	NP_002102.4:n.4872+1550T=
NM_001388492.1:c.4866+1550T= MANE Select	NP_001375421.1:n.4866+1550T=