Canonical Allele Identifier: CA1434071053

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3131647C= , CM000666.2:g.3131647C=	GRCh38
NC_000004.11:g.3133374C= , CM000666.1:g.3133374C=	GRCh37
NC_000004.10:g.3103172C=	NCBI36
NG_009378.1:g.61973C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355072.11:c.2108C= MANE Select	ENSP00000347184.5:p.Pro703=
ENST00000355072.10:c.2108C=	ENSP00000347184.5:p.Pro703=
ENST00000680239.1:c.1850C=	ENSP00000506169.1:p.Pro617=
ENST00000680291.1:n.2205C=
ENST00000680360.1:c.1850C=	ENSP00000505014.1:p.Pro617=
ENST00000680956.1:c.1850C=	ENSP00000506029.1:p.Pro617=
ENST00000681528.1:c.1850C=	ENSP00000506116.1:p.Pro617=
ENST00000355072.9:c.2108C=	ENSP00000347184.5:p.Pro703=
ENST00000510626.5:n.2207C=
NM_002111.7:c.2114C=	NP_002102.4:p.Pro705=
NM_002111.8:c.2114C=	NP_002102.4:p.Pro705=
NM_001388492.1:c.2108C= MANE Select	NP_001375421.1:p.Pro703=