Canonical Allele Identifier: CA2824227

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3160307C>T , CM000666.2:g.3160307C>T	GRCh38
NC_000004.11:g.3162034C>T , CM000666.1:g.3162034C>T	GRCh37
NC_000004.10:g.3131832C>T	NCBI36
NG_009378.1:g.90633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355072.11:c.3779C>T MANE Select	ENSP00000347184.5:p.Thr1260Met
ENST00000355072.10:c.3779C>T	ENSP00000347184.5:p.Thr1260Met
ENST00000680239.1:c.3521C>T	ENSP00000506169.1:p.Thr1174Met
ENST00000680291.1:n.3876C>T
ENST00000680360.1:c.3521C>T	ENSP00000505014.1:p.Thr1174Met
ENST00000680956.1:c.3521C>T	ENSP00000506029.1:p.Thr1174Met
ENST00000681528.1:c.3521C>T	ENSP00000506116.1:p.Thr1174Met
ENST00000355072.9:c.3779C>T	ENSP00000347184.5:p.Thr1260Met
ENST00000510626.5:n.3878C>T
NM_002111.7:c.3785C>T	NP_002102.4:p.Thr1262Met
NM_002111.8:c.3785C>T	NP_002102.4:p.Thr1262Met
NM_001388492.1:c.3779C>T MANE Select	NP_001375421.1:p.Thr1260Met