Canonical Allele Identifier: CA491114145

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638250G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345909G>A , CM000677.2:g.72345909G>A	GRCh38
NC_000015.9:g.72638250G>A , CM000677.1:g.72638250G>A	GRCh37
NC_000015.8:g.70425304G>A	NCBI36
NG_009017.1:g.35271C>T
NG_009017.2:g.35271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+326C>T	ENSP00000457521.2:n.*81+326C>T
ENST00000682061.1:c.*1409C>T	ENSP00000508316.1:n.*1409C>T
ENST00000682064.1:n.1290C>T
ENST00000682177.1:c.1464+326C>T	ENSP00000507409.1:n.1464+326C>T
ENST00000682235.1:n.1086C>T
ENST00000682461.1:c.1527+326C>T	ENSP00000507308.1:n.1527+326C>T
ENST00000682653.1:n.2067C>T
ENST00000682657.1:c.*900C>T	ENSP00000507753.1:n.*900C>T
ENST00000682721.1:c.*1224+326C>T	ENSP00000507535.1:n.*1224+326C>T
ENST00000682843.1:c.*1062+326C>T	ENSP00000508173.1:n.*1062+326C>T
ENST00000683003.1:c.*900C>T	ENSP00000507576.1:n.*900C>T
ENST00000683133.1:c.1605+326C>T	ENSP00000508108.1:n.1605+326C>T
ENST00000683243.1:c.*574+326C>T	ENSP00000507042.1:n.*574+326C>T
ENST00000683463.1:c.*552C>T	ENSP00000507986.1:n.*552C>T
ENST00000683548.1:n.1521C>T
ENST00000683579.1:c.*1319+326C>T	ENSP00000506867.1:n.*1319+326C>T
ENST00000683587.1:n.1594C>T
ENST00000683681.1:c.1422-133C>T	ENSP00000508110.1:n.1422-133C>T
ENST00000683735.1:c.*1461C>T	ENSP00000508336.1:n.*1461C>T
ENST00000683853.1:c.*226+326C>T	ENSP00000506834.1:n.*226+326C>T
ENST00000683860.1:c.*183C>T	ENSP00000507179.1:n.*183C>T
ENST00000683884.1:c.*390C>T	ENSP00000507004.1:n.*390C>T
ENST00000684041.1:c.*322C>T	ENSP00000508382.1:n.*322C>T
ENST00000684125.1:c.*81+326C>T	ENSP00000507320.1:n.*81+326C>T
ENST00000684203.1:n.3512C>T
ENST00000684231.1:c.*831+326C>T	ENSP00000507748.1:n.*831+326C>T
ENST00000684263.1:c.*687C>T	ENSP00000508369.1:n.*687C>T
ENST00000684305.1:c.1869+326C>T	ENSP00000506819.1:n.1869+326C>T
ENST00000684415.1:c.*614C>T	ENSP00000507227.1:n.*614C>T
ENST00000684520.1:c.*322C>T	ENSP00000506826.1:n.*322C>T
ENST00000684602.1:c.*1087+326C>T	ENSP00000507996.1:n.*1087+326C>T
ENST00000684667.1:c.1752+326C>T	ENSP00000507003.1:n.1752+326C>T
ENST00000268097.10:c.1421+326C>T MANE Select	ENSP00000268097.6:n.1421+326C>T
ENST00000268097.9:c.1421+326C>T	ENSP00000268097.5:n.1421+326C>T
ENST00000379915.4:c.503+326C>T	ENSP00000478716.1:n.503+326C>T
ENST00000566304.5:c.1454+326C>T	ENSP00000455114.1:n.1454+326C>T
ENST00000567027.5:c.1036+326C>T
ENST00000567159.5:c.1421+326C>T	ENSP00000456489.1:n.1421+326C>T
ENST00000567411.5:c.*942+326C>T	ENSP00000455545.1:n.*942+326C>T
ENST00000568777.5:n.6641+326C>T
NM_000520.4:c.1421+326C>T	NP_000511.2:n.1421+326C>T
NM_000520.5:c.1421+326C>T	NP_000511.2:n.1421+326C>T
NM_001318825.1:c.1454+326C>T	NP_001305754.1:n.1454+326C>T
NR_134869.1:n.1665+326C>T
NM_000520.6:c.1421+326C>T MANE Select	NP_000511.2:n.1421+326C>T
NM_001318825.2:c.1454+326C>T	NP_001305754.1:n.1454+326C>T
NR_134869.2:n.1206+326C>T
NR_134869.3:n.1206+326C>T