Canonical Allele Identifier: CA2760192671

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3060509A>G , CM000666.2:g.3060509A>G	GRCh38
NC_000004.11:g.3062236A>G , CM000666.1:g.3062236A>G	GRCh37
NC_000004.10:g.3032034A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647962.1:n.825-1967A>G
ENST00000649900.1:n.503+18264A>G
ENST00000680239.1:c.5+18264A>G	ENSP00000506169.1:n.5+18264A>G
ENST00000680360.1:c.5+18264A>G	ENSP00000505014.1:n.5+18264A>G
ENST00000680956.1:c.5+18264A>G	ENSP00000506029.1:n.5+18264A>G
ENST00000681528.1:c.5+18264A>G	ENSP00000506116.1:n.5+18264A>G