Canonical Allele Identifier: CA1434122648

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3240118C= , CM000666.2:g.3240118C=	GRCh38
NC_000004.11:g.3241845C= , CM000666.1:g.3241845C=	GRCh37
NC_000004.10:g.3211643C=	NCBI36
NG_009378.1:g.170444C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001388492.1:c.*59C= MANE Select	NP_001375421.1:n.*59C=
ENST00000355072.11:c.*59C= MANE Select	ENSP00000347184.5:n.*59C=
NM_002111.7:c.*59C=	NP_002102.4:n.*59C=
NM_002111.8:c.*59C=	NP_002102.4:n.*59C=
ENST00000355072.10:c.*59C=	ENSP00000347184.5:n.*59C=
ENST00000355072.9:c.*59C=	ENSP00000347184.5:n.*59C=
ENST00000510626.5:n.10616C=
ENST00000680239.1:c.*505C=	ENSP00000506169.1:n.*505C=
ENST00000680360.1:c.*2695C=	ENSP00000505014.1:n.*2695C=
ENST00000680956.1:c.*59C=	ENSP00000506029.1:n.*59C=
ENST00000681528.1:c.*59C=	ENSP00000506116.1:n.*59C=