Canonical Allele Identifier: CA91423177

Gene: HTT

Linked Data

• dbSNP Id: rs948037667
• MyVariant Identifiers: chr4:g.3062391G>A (hg19) ; chr4:g.3060664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3060664G>A , CM000666.2:g.3060664G>A	GRCh38
NC_000004.11:g.3062391G>A , CM000666.1:g.3062391G>A	GRCh37
NC_000004.10:g.3032189G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647962.1:n.825-1812G>A
ENST00000649900.1:n.503+18419G>A
ENST00000680239.1:c.5+18419G>A	ENSP00000506169.1:n.5+18419G>A
ENST00000680360.1:c.5+18419G>A	ENSP00000505014.1:n.5+18419G>A
ENST00000680956.1:c.5+18419G>A	ENSP00000506029.1:n.5+18419G>A
ENST00000681528.1:c.5+18419G>A	ENSP00000506116.1:n.5+18419G>A