Canonical Allele Identifier: CA1434083791
Gene: HTT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3158423G= , CM000666.2:g.3158423G= GRCh38
NC_000004.11:g.3160150G= , CM000666.1:g.3160150G= GRCh37
NC_000004.10:g.3129948G= NCBI36
NG_009378.1:g.88749G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.3753+1224G= MANE Select ENSP00000347184.5:n.3753+1224G=
ENST00000355072.10:c.3753+1224G= ENSP00000347184.5:n.3753+1224G=
ENST00000680239.1:c.3495+1224G= ENSP00000506169.1:n.3495+1224G=
ENST00000680291.1:n.3850+1224G=
ENST00000680360.1:c.3495+1224G= ENSP00000505014.1:n.3495+1224G=
ENST00000680956.1:c.3495+1224G= ENSP00000506029.1:n.3495+1224G=
ENST00000681528.1:c.3495+1224G= ENSP00000506116.1:n.3495+1224G=
ENST00000355072.9:c.3753+1224G= ENSP00000347184.5:n.3753+1224G=
ENST00000510626.5:n.3852+1224G=
NM_002111.7:c.3759+1224G= NP_002102.4:n.3759+1224G=
NM_002111.8:c.3759+1224G= NP_002102.4:n.3759+1224G=
NM_001388492.1:c.3753+1224G= MANE Select NP_001375421.1:n.3753+1224G=