Canonical Allele Identifier: CA356091614

Gene: HTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3136238C>T , CM000666.2:g.3136238C>T	GRCh38
NC_000004.11:g.3137965C>T , CM000666.1:g.3137965C>T	GRCh37
NC_000004.10:g.3107763C>T	NCBI36
NG_009378.1:g.66564C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001388492.1:c.2710C>T MANE Select	NP_001375421.1:p.Gln904Ter
ENST00000355072.11:c.2710C>T MANE Select	ENSP00000347184.5:p.Gln904Ter
NM_002111.7:c.2716C>T	NP_002102.4:p.Gln906Ter
NM_002111.8:c.2716C>T	NP_002102.4:p.Gln906Ter
ENST00000355072.10:c.2710C>T	ENSP00000347184.5:p.Gln904Ter
ENST00000355072.9:c.2710C>T	ENSP00000347184.5:p.Gln904Ter
ENST00000510626.5:n.2809C>T
ENST00000680239.1:c.2452C>T	ENSP00000506169.1:p.Gln818Ter
ENST00000680291.1:n.2807C>T
ENST00000680360.1:c.2452C>T	ENSP00000505014.1:p.Gln818Ter
ENST00000680956.1:c.2452C>T	ENSP00000506029.1:p.Gln818Ter
ENST00000681528.1:c.2452C>T	ENSP00000506116.1:p.Gln818Ter