Canonical Allele Identifier: CA793931587
Gene: HTT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3217326C>G , CM000666.2:g.3217326C>G GRCh38
NC_000004.11:g.3219053C>G , CM000666.1:g.3219053C>G GRCh37
NC_000004.10:g.3188851C>G NCBI36
NG_009378.1:g.147652C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.7055-439C>G MANE Select ENSP00000347184.5:n.7055-439C>G
ENST00000355072.10:c.7055-439C>G ENSP00000347184.5:n.7055-439C>G
ENST00000680239.1:c.6797-439C>G ENSP00000506169.1:n.6797-439C>G
ENST00000680360.1:c.*262-439C>G ENSP00000505014.1:n.*262-439C>G
ENST00000680956.1:c.6797-439C>G ENSP00000506029.1:n.6797-439C>G
ENST00000681528.1:c.6887-439C>G ENSP00000506116.1:n.6887-439C>G
ENST00000355072.9:c.7055-439C>G ENSP00000347184.5:n.7055-439C>G
ENST00000510626.5:n.8183-439C>G
NM_002111.7:c.7061-439C>G NP_002102.4:n.7061-439C>G
NM_002111.8:c.7061-439C>G NP_002102.4:n.7061-439C>G
NM_001388492.1:c.7055-439C>G MANE Select NP_001375421.1:n.7055-439C>G
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