Canonical Allele Identifier: CA793936368

Gene: HTT

Linked Data

• dbSNP Id: rs1273250725
• gnomAD v3: 4-3223648-G-A
• gnomAD v4: 4-3223648-G-A
• MyVariant Identifiers: chr4:g.3225375G>A (hg19) ; chr4:g.3223648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3223648G>A , CM000666.2:g.3223648G>A	GRCh38
NC_000004.11:g.3225375G>A , CM000666.1:g.3225375G>A	GRCh37
NC_000004.10:g.3195173G>A	NCBI36
NG_009378.1:g.153974G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355072.11:c.7625+88G>A MANE Select	ENSP00000347184.5:n.7625+88G>A
ENST00000355072.10:c.7625+88G>A	ENSP00000347184.5:n.7625+88G>A
ENST00000680239.1:c.7367+88G>A	ENSP00000506169.1:n.7367+88G>A
ENST00000680360.1:c.*832+88G>A	ENSP00000505014.1:n.*832+88G>A
ENST00000680956.1:c.7367+88G>A	ENSP00000506029.1:n.7367+88G>A
ENST00000681528.1:c.7457+88G>A	ENSP00000506116.1:n.7457+88G>A
ENST00000355072.9:c.7625+88G>A	ENSP00000347184.5:n.7625+88G>A
ENST00000510626.5:n.8753+88G>A
NM_002111.7:c.7631+88G>A	NP_002102.4:n.7631+88G>A
NM_002111.8:c.7631+88G>A	NP_002102.4:n.7631+88G>A
NM_001388492.1:c.7625+88G>A MANE Select	NP_001375421.1:n.7625+88G>A