Canonical Allele Identifier: CA1434114184
Gene: HTT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3223651C= , CM000666.2:g.3223651C= GRCh38
NC_000004.11:g.3225378C= , CM000666.1:g.3225378C= GRCh37
NC_000004.10:g.3195176C= NCBI36
NG_009378.1:g.153977C=

Transcript Alleles

HGVS Amino-acid change
ENST00000355072.11:c.7625+91C= MANE Select ENSP00000347184.5:n.7625+91C=
ENST00000355072.10:c.7625+91C= ENSP00000347184.5:n.7625+91C=
ENST00000680239.1:c.7367+91C= ENSP00000506169.1:n.7367+91C=
ENST00000680360.1:c.*832+91C= ENSP00000505014.1:n.*832+91C=
ENST00000680956.1:c.7367+91C= ENSP00000506029.1:n.7367+91C=
ENST00000681528.1:c.7457+91C= ENSP00000506116.1:n.7457+91C=
ENST00000355072.9:c.7625+91C= ENSP00000347184.5:n.7625+91C=
ENST00000510626.5:n.8753+91C=
NM_002111.7:c.7631+91C= NP_002102.4:n.7631+91C=
NM_002111.8:c.7631+91C= NP_002102.4:n.7631+91C=
NM_001388492.1:c.7625+91C= MANE Select NP_001375421.1:n.7625+91C=