Canonical Allele Identifier: CA1434058174
Community Standard Title: NM_001388492.1(HTT):c.469-983A=
Gene: HTT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3102841A= , CM000666.2:g.3102841A= GRCh38
NC_000004.11:g.3104568A= , CM000666.1:g.3104568A= GRCh37
NC_000004.10:g.3074366A= NCBI36
NG_009378.1:g.33167A=

Transcript Alleles

HGVS Amino-acid Change
NM_001388492.1:c.469-983A= MANE Select NP_001375421.1:n.469-983A=
ENST00000355072.11:c.469-983A= MANE Select ENSP00000347184.5:n.469-983A=
NM_002111.7:c.475-983A= NP_002102.4:n.475-983A=
NM_002111.8:c.475-983A= NP_002102.4:n.475-983A=
ENST00000355072.10:c.469-983A= ENSP00000347184.5:n.469-983A=
ENST00000355072.9:c.469-983A= ENSP00000347184.5:n.469-983A=
ENST00000680239.1:c.211-983A= ENSP00000506169.1:n.211-983A=
ENST00000680291.1:n.614-983A=
ENST00000680360.1:c.211-983A= ENSP00000505014.1:n.211-983A=
ENST00000680956.1:c.211-983A= ENSP00000506029.1:n.211-983A=
ENST00000681528.1:c.211-983A= ENSP00000506116.1:n.211-983A=