Canonical Allele Identifier: CA11770330
Gene: HTT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3184020T>C , CM000666.2:g.3184020T>C GRCh38
NC_000004.11:g.3185747T>C , CM000666.1:g.3185747T>C GRCh37
NC_000004.10:g.3155545T>C NCBI36
NG_009378.1:g.114346T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355072.11:c.4866+1550T>C MANE Select ENSP00000347184.5:n.4866+1550T>C
ENST00000355072.10:c.4866+1550T>C ENSP00000347184.5:n.4866+1550T>C
ENST00000680239.1:c.4608+1550T>C ENSP00000506169.1:n.4608+1550T>C
ENST00000680291.1:n.4963+1550T>C
ENST00000680360.1:c.4608+1550T>C ENSP00000505014.1:n.4608+1550T>C
ENST00000680956.1:c.4608+1550T>C ENSP00000506029.1:n.4608+1550T>C
ENST00000681528.1:c.4608+1550T>C ENSP00000506116.1:n.4608+1550T>C
ENST00000355072.9:c.4866+1550T>C ENSP00000347184.5:n.4866+1550T>C
ENST00000510626.5:n.4965+1550T>C
NM_002111.7:c.4872+1550T>C NP_002102.4:n.4872+1550T>C
NM_002111.8:c.4872+1550T>C NP_002102.4:n.4872+1550T>C
NM_001388492.1:c.4866+1550T>C MANE Select NP_001375421.1:n.4866+1550T>C
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