Canonical Allele Identifier: CA2186747527
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72355575G= , CM000677.2:g.72355575G= GRCh38
NC_000015.9:g.72647916G= , CM000677.1:g.72647916G= GRCh37
NC_000015.8:g.70434970G= NCBI36
NG_009017.1:g.25605C=
NG_009017.2:g.25605C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.409C=
ENST00000567027.6:c.396C= ENSP00000457521.2:p.Val132=
ENST00000568260.2:c.463C= ENSP00000458128.2:n.463C=
ENST00000682061.1:c.*58C= ENSP00000508316.1:n.*58C=
ENST00000682177.1:c.396C= ENSP00000507409.1:p.Val132=
ENST00000682461.1:c.660C= ENSP00000507308.1:n.660C=
ENST00000682653.1:n.427C=
ENST00000682657.1:c.254-4341C= ENSP00000507753.1:n.254-4341C=
ENST00000682721.1:c.*199C= ENSP00000507535.1:n.*199C=
ENST00000682843.1:c.*294C= ENSP00000508173.1:n.*294C=
ENST00000683003.1:c.396C= ENSP00000507576.1:p.Val132=
ENST00000683133.1:c.580C= ENSP00000508108.1:n.580C=
ENST00000683228.1:n.427C=
ENST00000683243.1:c.396C= ENSP00000507042.1:p.Val132=
ENST00000683463.1:c.396C= ENSP00000507986.1:p.Val132=
ENST00000683548.1:n.427C=
ENST00000683579.1:c.*294C= ENSP00000506867.1:n.*294C=
ENST00000683587.1:n.427C=
ENST00000683681.1:c.396C= ENSP00000508110.1:p.Val132=
ENST00000683735.1:c.*294C= ENSP00000508336.1:n.*294C=
ENST00000683853.1:c.396C= ENSP00000506834.1:p.Val132=
ENST00000683860.1:c.396C= ENSP00000507179.1:p.Val132=
ENST00000683884.1:c.396C= ENSP00000507004.1:p.Val132=
ENST00000684041.1:c.396C= ENSP00000508382.1:p.Val132=
ENST00000684125.1:c.396C= ENSP00000507320.1:p.Val132=
ENST00000684203.1:n.413C=
ENST00000684231.1:c.396C= ENSP00000507748.1:p.Val132=
ENST00000684263.1:c.396C= ENSP00000508369.1:p.Val132=
ENST00000684305.1:c.844C= ENSP00000506819.1:n.844C=
ENST00000684415.1:c.396C= ENSP00000507227.1:p.Val132=
ENST00000684520.1:c.396C= ENSP00000506826.1:p.Val132=
ENST00000684602.1:c.*220C= ENSP00000507996.1:n.*220C=
ENST00000684667.1:c.727C= ENSP00000507003.1:n.727C=
ENST00000268097.10:c.396C= MANE Select ENSP00000268097.6:p.Val132=
ENST00000268097.9:c.396C= ENSP00000268097.5:p.Val132=
ENST00000379915.4:c.396C= ENSP00000478716.1:p.Val132=
ENST00000563762.5:c.487C= ENSP00000456346.1:n.487C=
ENST00000563908.1:n.393C=
ENST00000566304.5:c.429C= ENSP00000455114.1:p.Val143=
ENST00000566672.5:c.396C= ENSP00000457037.1:p.Val132=
ENST00000567027.5:c.268C=
ENST00000567159.5:c.396C= ENSP00000456489.1:p.Val132=
ENST00000567411.5:c.396C= ENSP00000455545.1:p.Val132=
ENST00000568260.1:c.444C=
ENST00000568777.5:n.3979C=
ENST00000569410.5:c.396C= ENSP00000457125.1:p.Val132=
ENST00000569509.5:n.401C=
NM_000520.4:c.396C= NP_000511.2:p.Val132=
NM_000520.5:c.396C= NP_000511.2:p.Val132=
NM_001318825.1:c.429C= NP_001305754.1:p.Val143=
NR_134869.1:n.897C=
NM_000520.6:c.396C= MANE Select NP_000511.2:p.Val132=
NM_001318825.2:c.429C= NP_001305754.1:p.Val143=
NR_134869.2:n.438C=
NR_134869.3:n.438C=