Canonical Allele Identifier: CA1434074780

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3139683C= , CM000666.2:g.3139683C=	GRCh38
NC_000004.11:g.3141410C= , CM000666.1:g.3141410C=	GRCh37
NC_000004.10:g.3111208C=	NCBI36
NG_009378.1:g.70009C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001388492.1:c.2799-827C= MANE Select	NP_001375421.1:n.2799-827C=
ENST00000355072.11:c.2799-827C= MANE Select	ENSP00000347184.5:n.2799-827C=
NM_002111.7:c.2805-827C=	NP_002102.4:n.2805-827C=
NM_002111.8:c.2805-827C=	NP_002102.4:n.2805-827C=
ENST00000355072.10:c.2799-827C=	ENSP00000347184.5:n.2799-827C=
ENST00000355072.9:c.2799-827C=	ENSP00000347184.5:n.2799-827C=
ENST00000510626.5:n.2898-827C=
ENST00000680239.1:c.2541-827C=	ENSP00000506169.1:n.2541-827C=
ENST00000680291.1:n.2896-827C=
ENST00000680360.1:c.2541-827C=	ENSP00000505014.1:n.2541-827C=
ENST00000680956.1:c.2541-827C=	ENSP00000506029.1:n.2541-827C=
ENST00000681528.1:c.2541-827C=	ENSP00000506116.1:n.2541-827C=