Canonical Allele Identifier: CA491122671

Gene: HEXA

Linked Data

• dbSNP Id: rs76873846
• gnomAD v4: 15-72350582-C-A
• MyVariant Identifiers: chr15:g.72642923C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350582C>A , CM000677.2:g.72350582C>A	GRCh38
NC_000015.9:g.72642923C>A , CM000677.1:g.72642923C>A	GRCh37
NC_000015.8:g.70429977C>A	NCBI36
NG_009017.1:g.30598G>T
NG_009017.2:g.30598G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3087G>T
ENST00000567027.6:c.741G>T	ENSP00000457521.2:p.Arg247=
ENST00000682061.1:c.*403G>T	ENSP00000508316.1:n.*403G>T
ENST00000682177.1:c.784G>T	ENSP00000507409.1:n.784G>T
ENST00000682461.1:c.847G>T	ENSP00000507308.1:n.847G>T
ENST00000682653.1:n.772G>T
ENST00000682657.1:c.*151G>T	ENSP00000507753.1:n.*151G>T
ENST00000682721.1:c.*544G>T	ENSP00000507535.1:n.*544G>T
ENST00000682843.1:c.*639G>T	ENSP00000508173.1:n.*639G>T
ENST00000683003.1:c.*151G>T	ENSP00000507576.1:n.*151G>T
ENST00000683133.1:c.925G>T	ENSP00000508108.1:n.925G>T
ENST00000683228.1:n.772G>T
ENST00000683243.1:c.*151G>T	ENSP00000507042.1:n.*151G>T
ENST00000683463.1:c.741G>T	ENSP00000507986.1:p.Arg247=
ENST00000683548.1:n.772G>T
ENST00000683579.1:c.*639G>T	ENSP00000506867.1:n.*639G>T
ENST00000683587.1:n.772G>T
ENST00000683681.1:c.741G>T	ENSP00000508110.1:p.Arg247=
ENST00000683735.1:c.*639G>T	ENSP00000508336.1:n.*639G>T
ENST00000683742.1:n.572G>T
ENST00000683853.1:c.741G>T	ENSP00000506834.1:p.Arg247=
ENST00000683860.1:c.741G>T	ENSP00000507179.1:p.Arg247=
ENST00000683884.1:c.741G>T	ENSP00000507004.1:p.Arg247=
ENST00000684041.1:c.741G>T	ENSP00000508382.1:p.Arg247=
ENST00000684125.1:c.741G>T	ENSP00000507320.1:p.Arg247=
ENST00000684203.1:n.2579G>T
ENST00000684231.1:c.*151G>T	ENSP00000507748.1:n.*151G>T
ENST00000684263.1:c.741G>T	ENSP00000508369.1:p.Arg247=
ENST00000684305.1:c.1189G>T	ENSP00000506819.1:n.1189G>T
ENST00000684415.1:c.741G>T	ENSP00000507227.1:p.Arg247=
ENST00000684520.1:c.741G>T	ENSP00000506826.1:p.Arg247=
ENST00000684602.1:c.*407G>T	ENSP00000507996.1:n.*407G>T
ENST00000684667.1:c.1072G>T	ENSP00000507003.1:n.1072G>T
ENST00000268097.10:c.741G>T MANE Select	ENSP00000268097.6:p.Arg247=
ENST00000268097.9:c.741G>T	ENSP00000268097.5:p.Arg247=
ENST00000379915.4:c.413-4257G>T	ENSP00000478716.1:n.413-4257G>T
ENST00000563762.5:c.674G>T	ENSP00000456346.1:n.674G>T
ENST00000566304.5:c.774G>T	ENSP00000455114.1:p.Arg258=
ENST00000566672.5:c.*151G>T	ENSP00000457037.1:n.*151G>T
ENST00000567027.5:c.613G>T
ENST00000567159.5:c.741G>T	ENSP00000456489.1:p.Arg247=
ENST00000567411.5:c.*262G>T	ENSP00000455545.1:n.*262G>T
ENST00000568777.5:n.6145G>T
ENST00000569410.5:c.741G>T	ENSP00000457125.1:p.Arg247=
ENST00000569509.5:n.588G>T
NM_000520.4:c.741G>T	NP_000511.2:p.Arg247=
NM_000520.5:c.741G>T	NP_000511.2:p.Arg247=
NM_001318825.1:c.774G>T	NP_001305754.1:p.Arg258=
NR_134869.1:n.1242G>T
NM_000520.6:c.741G>T MANE Select	NP_000511.2:p.Arg247=
NM_001318825.2:c.774G>T	NP_001305754.1:p.Arg258=
NR_134869.2:n.783G>T
NR_134869.3:n.783G>T