Canonical Allele Identifier: CA793838080

Gene: HTT

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3078446G>C , CM000666.2:g.3078446G>C	GRCh38
NC_000004.11:g.3080173G>C , CM000666.1:g.3080173G>C	GRCh37
NC_000004.10:g.3049971G>C	NCBI36
NG_009378.1:g.8772G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355072.11:c.263+3358G>C MANE Select	ENSP00000347184.5:n.263+3358G>C
ENST00000355072.10:c.263+3358G>C	ENSP00000347184.5:n.263+3358G>C
ENST00000649900.1:n.504-8493G>C
ENST00000680239.1:c.6-8493G>C	ENSP00000506169.1:n.6-8493G>C
ENST00000680291.1:n.408+3358G>C
ENST00000680360.1:c.6-8493G>C	ENSP00000505014.1:n.6-8493G>C
ENST00000680956.1:c.6-8493G>C	ENSP00000506029.1:n.6-8493G>C
ENST00000681528.1:c.6-8493G>C	ENSP00000506116.1:n.6-8493G>C
ENST00000355072.9:c.263+3358G>C	ENSP00000347184.5:n.263+3358G>C
NM_002111.7:c.269+3358G>C	NP_002102.4:n.269+3358G>C
NM_002111.8:c.269+3358G>C	NP_002102.4:n.269+3358G>C
NM_001388492.1:c.263+3358G>C MANE Select	NP_001375421.1:n.263+3358G>C