Canonical Allele Identifier: CA491111439

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637837G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345496G>A , CM000677.2:g.72345496G>A	GRCh38
NC_000015.9:g.72637837G>A , CM000677.1:g.72637837G>A	GRCh37
NC_000015.8:g.70424891G>A	NCBI36
NG_009017.1:g.35684C>T
NG_009017.2:g.35684C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*136C>T	ENSP00000457521.2:n.*136C>T
ENST00000682061.1:c.*1822C>T	ENSP00000508316.1:n.*1822C>T
ENST00000682064.1:n.1703C>T
ENST00000682177.1:c.1519C>T	ENSP00000507409.1:n.1519C>T
ENST00000682235.1:n.1499C>T
ENST00000682461.1:c.1582C>T	ENSP00000507308.1:n.1582C>T
ENST00000682653.1:n.2480C>T
ENST00000682657.1:c.*1313C>T	ENSP00000507753.1:n.*1313C>T
ENST00000682721.1:c.*1279C>T	ENSP00000507535.1:n.*1279C>T
ENST00000682843.1:c.*1117C>T	ENSP00000508173.1:n.*1117C>T
ENST00000683003.1:c.*1313C>T	ENSP00000507576.1:n.*1313C>T
ENST00000683133.1:c.1660C>T	ENSP00000508108.1:n.1660C>T
ENST00000683243.1:c.*629C>T	ENSP00000507042.1:n.*629C>T
ENST00000683463.1:c.*965C>T	ENSP00000507986.1:n.*965C>T
ENST00000683548.1:n.1934C>T
ENST00000683579.1:c.*1374C>T	ENSP00000506867.1:n.*1374C>T
ENST00000683587.1:n.2007C>T
ENST00000683681.1:c.*154C>T	ENSP00000508110.1:n.*154C>T
ENST00000683735.1:c.*1874C>T	ENSP00000508336.1:n.*1874C>T
ENST00000683853.1:c.*281C>T	ENSP00000506834.1:n.*281C>T
ENST00000683860.1:c.*596C>T	ENSP00000507179.1:n.*596C>T
ENST00000683884.1:c.*803C>T	ENSP00000507004.1:n.*803C>T
ENST00000684041.1:c.*609C>T	ENSP00000508382.1:n.*609C>T
ENST00000684125.1:c.*136C>T	ENSP00000507320.1:n.*136C>T
ENST00000684203.1:n.3925C>T
ENST00000684231.1:c.*886C>T	ENSP00000507748.1:n.*886C>T
ENST00000684263.1:c.*1100C>T	ENSP00000508369.1:n.*1100C>T
ENST00000684305.1:c.1924C>T	ENSP00000506819.1:n.1924C>T
ENST00000684415.1:c.*1027C>T	ENSP00000507227.1:n.*1027C>T
ENST00000684520.1:c.*735C>T	ENSP00000506826.1:n.*735C>T
ENST00000684602.1:c.*1142C>T	ENSP00000507996.1:n.*1142C>T
ENST00000684667.1:c.1807C>T	ENSP00000507003.1:n.1807C>T
ENST00000268097.10:c.1476C>T MANE Select	ENSP00000268097.6:p.Asp492=
ENST00000268097.9:c.1476C>T	ENSP00000268097.5:p.Asp492=
ENST00000379915.4:c.558C>T	ENSP00000478716.1:p.Asp186=
ENST00000564677.5:n.268C>T
ENST00000565873.1:n.387C>T
ENST00000566304.5:c.1509C>T	ENSP00000455114.1:p.Asp503=
ENST00000567027.5:c.1091C>T
ENST00000567159.5:c.1476C>T	ENSP00000456489.1:p.Asp492=
ENST00000567411.5:c.*997C>T	ENSP00000455545.1:n.*997C>T
ENST00000568777.5:n.6696C>T
ENST00000569116.1:n.183C>T
NM_000520.4:c.1476C>T	NP_000511.2:p.Asp492=
NM_000520.5:c.1476C>T	NP_000511.2:p.Asp492=
NM_001318825.1:c.1509C>T	NP_001305754.1:p.Asp503=
NR_134869.1:n.1720C>T
NM_000520.6:c.1476C>T MANE Select	NP_000511.2:p.Asp492=
NM_001318825.2:c.1509C>T	NP_001305754.1:p.Asp503=
NR_134869.2:n.1261C>T
NR_134869.3:n.1261C>T