Canonical Allele Identifier: CA1434037244
Gene: HTT HGNC NCBI

Linked Data

dbSNP Id: rs1578467286

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060612C>T , CM000666.2:g.3060612C>T GRCh38
NC_000004.11:g.3062339C>T , CM000666.1:g.3062339C>T GRCh37
NC_000004.10:g.3032137C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-1864C>T
ENST00000649900.1:n.503+18367C>T
ENST00000680239.1:c.5+18367C>T ENSP00000506169.1:n.5+18367C>T
ENST00000680360.1:c.5+18367C>T ENSP00000505014.1:n.5+18367C>T
ENST00000680956.1:c.5+18367C>T ENSP00000506029.1:n.5+18367C>T
ENST00000681528.1:c.5+18367C>T ENSP00000506116.1:n.5+18367C>T