Canonical Allele Identifier: CA1434117520

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3229927T= , CM000666.2:g.3229927T=	GRCh38
NC_000004.11:g.3231654T= , CM000666.1:g.3231654T=	GRCh37
NC_000004.10:g.3201452T=	NCBI36
NG_009378.1:g.160253T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355072.11:c.8150T= MANE Select	ENSP00000347184.5:p.Phe2717=
ENST00000355072.10:c.8150T=	ENSP00000347184.5:p.Phe2717=
ENST00000680239.1:c.7892T=	ENSP00000506169.1:p.Phe2631=
ENST00000680360.1:c.*1357T=	ENSP00000505014.1:n.*1357T=
ENST00000680956.1:c.7892T=	ENSP00000506029.1:p.Phe2631=
ENST00000681528.1:c.7982T=	ENSP00000506116.1:p.Phe2661=
ENST00000355072.9:c.8150T=	ENSP00000347184.5:p.Phe2717=
ENST00000510626.5:n.9278T=
ENST00000513806.1:n.204T=
NM_002111.7:c.8156T=	NP_002102.4:p.Phe2719=
NM_002111.8:c.8156T=	NP_002102.4:p.Phe2719=
NM_001388492.1:c.8150T= MANE Select	NP_001375421.1:p.Phe2717=