Canonical Allele Identifier: CA793764418
Gene: HTT HGNC NCBI

Linked Data

dbSNP Id: rs1433718800
MyVariant Identifiers: chr4:g.3062251A>C (hg19) chr4:g.3060524A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060524A>C , CM000666.2:g.3060524A>C GRCh38
NC_000004.11:g.3062251A>C , CM000666.1:g.3062251A>C GRCh37
NC_000004.10:g.3032049A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-1952A>C
ENST00000649900.1:n.503+18279A>C
ENST00000680239.1:c.5+18279A>C ENSP00000506169.1:n.5+18279A>C
ENST00000680360.1:c.5+18279A>C ENSP00000505014.1:n.5+18279A>C
ENST00000680956.1:c.5+18279A>C ENSP00000506029.1:n.5+18279A>C
ENST00000681528.1:c.5+18279A>C ENSP00000506116.1:n.5+18279A>C
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