Canonical Allele Identifier: CA2669706047

Gene: HTT

Linked Data

• gnomAD v4: 4-3223645-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3223645C>T , CM000666.2:g.3223645C>T	GRCh38
NC_000004.11:g.3225372C>T , CM000666.1:g.3225372C>T	GRCh37
NC_000004.10:g.3195170C>T	NCBI36
NG_009378.1:g.153971C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355072.11:c.7625+85C>T MANE Select	ENSP00000347184.5:n.7625+85C>T
ENST00000355072.10:c.7625+85C>T	ENSP00000347184.5:n.7625+85C>T
ENST00000680239.1:c.7367+85C>T	ENSP00000506169.1:n.7367+85C>T
ENST00000680360.1:c.*832+85C>T	ENSP00000505014.1:n.*832+85C>T
ENST00000680956.1:c.7367+85C>T	ENSP00000506029.1:n.7367+85C>T
ENST00000681528.1:c.7457+85C>T	ENSP00000506116.1:n.7457+85C>T
ENST00000355072.9:c.7625+85C>T	ENSP00000347184.5:n.7625+85C>T
ENST00000510626.5:n.8753+85C>T
NM_002111.7:c.7631+85C>T	NP_002102.4:n.7631+85C>T
NM_002111.8:c.7631+85C>T	NP_002102.4:n.7631+85C>T
NM_001388492.1:c.7625+85C>T MANE Select	NP_001375421.1:n.7625+85C>T