Canonical Allele Identifier: CA1434037227
Gene: HTT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060579T= , CM000666.2:g.3060579T= GRCh38
NC_000004.11:g.3062306T= , CM000666.1:g.3062306T= GRCh37
NC_000004.10:g.3032104T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-1897T=
ENST00000649900.1:n.503+18334T=
ENST00000680239.1:c.5+18334T= ENSP00000506169.1:n.5+18334T=
ENST00000680360.1:c.5+18334T= ENSP00000505014.1:n.5+18334T=
ENST00000680956.1:c.5+18334T= ENSP00000506029.1:n.5+18334T=
ENST00000681528.1:c.5+18334T= ENSP00000506116.1:n.5+18334T=