Canonical Allele Identifier: CA1434078229
Gene: HTT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3146926T= , CM000666.2:g.3146926T= GRCh38
NC_000004.11:g.3148653T= , CM000666.1:g.3148653T= GRCh37
NC_000004.10:g.3118451T= NCBI36
NG_009378.1:g.77252T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.3273T= MANE Select ENSP00000347184.5:p.Ile1091=
ENST00000355072.10:c.3273T= ENSP00000347184.5:p.Ile1091=
ENST00000680239.1:c.3015T= ENSP00000506169.1:p.Ile1005=
ENST00000680291.1:n.3370T=
ENST00000680360.1:c.3015T= ENSP00000505014.1:p.Ile1005=
ENST00000680956.1:c.3015T= ENSP00000506029.1:p.Ile1005=
ENST00000681528.1:c.3015T= ENSP00000506116.1:p.Ile1005=
ENST00000355072.9:c.3273T= ENSP00000347184.5:p.Ile1091=
ENST00000510626.5:n.3372T=
NM_002111.7:c.3279T= NP_002102.4:p.Ile1093=
NM_002111.8:c.3279T= NP_002102.4:p.Ile1093=
NM_001388492.1:c.3273T= MANE Select NP_001375421.1:p.Ile1091=