Canonical Allele Identifier: CA16616834
Gene: HTT HGNC NCBI

Linked Data

ClinVar Variation Id: 225541
dbSNP Id: rs1060505027
gnomAD v4: 4-3177388-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3177388G>A , CM000666.2:g.3177388G>A GRCh38
NC_000004.11:g.3179115G>A , CM000666.1:g.3179115G>A GRCh37
NC_000004.10:g.3148913G>A NCBI36
NG_009378.1:g.107714G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355072.11:c.4463+1G>A MANE Select ENSP00000347184.5:n.4463+1G>A
ENST00000355072.10:c.4463+1G>A ENSP00000347184.5:n.4463+1G>A
ENST00000680239.1:c.4205+1G>A ENSP00000506169.1:n.4205+1G>A
ENST00000680291.1:n.4560+1G>A
ENST00000680360.1:c.4205+1G>A ENSP00000505014.1:n.4205+1G>A
ENST00000680956.1:c.4205+1G>A ENSP00000506029.1:n.4205+1G>A
ENST00000681528.1:c.4205+1G>A ENSP00000506116.1:n.4205+1G>A
ENST00000355072.9:c.4463+1G>A ENSP00000347184.5:n.4463+1G>A
ENST00000510626.5:n.4562+1G>A
NM_002111.7:c.4469+1G>A NP_002102.4:n.4469+1G>A
NM_002111.8:c.4469+1G>A NP_002102.4:n.4469+1G>A
NM_001388492.1:c.4463+1G>A MANE Select NP_001375421.1:n.4463+1G>A