Canonical Allele Identifier: CA2823749

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3131647C>T , CM000666.2:g.3131647C>T	GRCh38
NC_000004.11:g.3133374C>T , CM000666.1:g.3133374C>T	GRCh37
NC_000004.10:g.3103172C>T	NCBI36
NG_009378.1:g.61973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355072.11:c.2108C>T MANE Select	ENSP00000347184.5:p.Pro703Leu
ENST00000355072.10:c.2108C>T	ENSP00000347184.5:p.Pro703Leu
ENST00000680239.1:c.1850C>T	ENSP00000506169.1:p.Pro617Leu
ENST00000680291.1:n.2205C>T
ENST00000680360.1:c.1850C>T	ENSP00000505014.1:p.Pro617Leu
ENST00000680956.1:c.1850C>T	ENSP00000506029.1:p.Pro617Leu
ENST00000681528.1:c.1850C>T	ENSP00000506116.1:p.Pro617Leu
ENST00000355072.9:c.2108C>T	ENSP00000347184.5:p.Pro703Leu
ENST00000510626.5:n.2207C>T
NM_002111.7:c.2114C>T	NP_002102.4:p.Pro705Leu
NM_002111.8:c.2114C>T	NP_002102.4:p.Pro705Leu
NM_001388492.1:c.2108C>T MANE Select	NP_001375421.1:p.Pro703Leu