Canonical Allele Identifier: CA1434037238
Gene: HTT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.3060599A= , CM000666.2:g.3060599A= GRCh38
NC_000004.11:g.3062326A= , CM000666.1:g.3062326A= GRCh37
NC_000004.10:g.3032124A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647962.1:n.825-1877A=
ENST00000649900.1:n.503+18354A=
ENST00000680239.1:c.5+18354A= ENSP00000506169.1:n.5+18354A=
ENST00000680360.1:c.5+18354A= ENSP00000505014.1:n.5+18354A=
ENST00000680956.1:c.5+18354A= ENSP00000506029.1:n.5+18354A=
ENST00000681528.1:c.5+18354A= ENSP00000506116.1:n.5+18354A=