Canonical Allele Identifier: CA1434084635
Community Standard Title: NM_001388492.1(HTT):c.3779C= (p.Thr1260=)
Gene: HTT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001388492.1:c.3779C= MANE Select NP_001375421.1:p.Thr1260=
ENST00000355072.11:c.3779C= MANE Select ENSP00000347184.5:p.Thr1260=
NM_002111.7:c.3785C= NP_002102.4:p.Thr1262=
NM_002111.8:c.3785C= NP_002102.4:p.Thr1262=
ENST00000355072.10:c.3779C= ENSP00000347184.5:p.Thr1260=
ENST00000355072.9:c.3779C= ENSP00000347184.5:p.Thr1260=
ENST00000510626.5:n.3878C=
ENST00000680239.1:c.3521C= ENSP00000506169.1:p.Thr1174=
ENST00000680291.1:n.3876C=
ENST00000680360.1:c.3521C= ENSP00000505014.1:p.Thr1174=
ENST00000680956.1:c.3521C= ENSP00000506029.1:p.Thr1174=
ENST00000681528.1:c.3521C= ENSP00000506116.1:p.Thr1174=