Canonical Allele Identifier: CA2760192674

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3060529T>C , CM000666.2:g.3060529T>C	GRCh38
NC_000004.11:g.3062256T>C , CM000666.1:g.3062256T>C	GRCh37
NC_000004.10:g.3032054T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647962.1:n.825-1947T>C
ENST00000649900.1:n.503+18284T>C
ENST00000680239.1:c.5+18284T>C	ENSP00000506169.1:n.5+18284T>C
ENST00000680360.1:c.5+18284T>C	ENSP00000505014.1:n.5+18284T>C
ENST00000680956.1:c.5+18284T>C	ENSP00000506029.1:n.5+18284T>C
ENST00000681528.1:c.5+18284T>C	ENSP00000506116.1:n.5+18284T>C