Canonical Allele Identifier: CA393058669

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637829A>T (hg19) ; chr15:g.72345488A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345488A>T , CM000677.2:g.72345488A>T	GRCh38
NC_000015.9:g.72637829A>T , CM000677.1:g.72637829A>T	GRCh37
NC_000015.8:g.70424883A>T	NCBI36
NG_009017.1:g.35692T>A
NG_009017.2:g.35692T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*144T>A	ENSP00000457521.2:n.*144T>A
ENST00000682061.1:c.*1830T>A	ENSP00000508316.1:n.*1830T>A
ENST00000682064.1:n.1711T>A
ENST00000682177.1:c.1527T>A	ENSP00000507409.1:n.1527T>A
ENST00000682235.1:n.1507T>A
ENST00000682461.1:c.1590T>A	ENSP00000507308.1:n.1590T>A
ENST00000682653.1:n.2488T>A
ENST00000682657.1:c.*1321T>A	ENSP00000507753.1:n.*1321T>A
ENST00000682721.1:c.*1287T>A	ENSP00000507535.1:n.*1287T>A
ENST00000682843.1:c.*1125T>A	ENSP00000508173.1:n.*1125T>A
ENST00000683003.1:c.*1321T>A	ENSP00000507576.1:n.*1321T>A
ENST00000683133.1:c.1668T>A	ENSP00000508108.1:n.1668T>A
ENST00000683243.1:c.*637T>A	ENSP00000507042.1:n.*637T>A
ENST00000683463.1:c.*973T>A	ENSP00000507986.1:n.*973T>A
ENST00000683548.1:n.1942T>A
ENST00000683579.1:c.*1382T>A	ENSP00000506867.1:n.*1382T>A
ENST00000683587.1:n.2015T>A
ENST00000683681.1:c.*162T>A	ENSP00000508110.1:n.*162T>A
ENST00000683735.1:c.*1882T>A	ENSP00000508336.1:n.*1882T>A
ENST00000683853.1:c.*289T>A	ENSP00000506834.1:n.*289T>A
ENST00000683860.1:c.*604T>A	ENSP00000507179.1:n.*604T>A
ENST00000683884.1:c.*811T>A	ENSP00000507004.1:n.*811T>A
ENST00000684041.1:c.*617T>A	ENSP00000508382.1:n.*617T>A
ENST00000684125.1:c.*144T>A	ENSP00000507320.1:n.*144T>A
ENST00000684203.1:n.3933T>A
ENST00000684231.1:c.*894T>A	ENSP00000507748.1:n.*894T>A
ENST00000684263.1:c.*1108T>A	ENSP00000508369.1:n.*1108T>A
ENST00000684305.1:c.1932T>A	ENSP00000506819.1:n.1932T>A
ENST00000684415.1:c.*1035T>A	ENSP00000507227.1:n.*1035T>A
ENST00000684520.1:c.*743T>A	ENSP00000506826.1:n.*743T>A
ENST00000684602.1:c.*1150T>A	ENSP00000507996.1:n.*1150T>A
ENST00000684667.1:c.1815T>A	ENSP00000507003.1:n.1815T>A
ENST00000268097.10:c.1484T>A MANE Select	ENSP00000268097.6:p.Phe495Tyr
ENST00000268097.9:c.1484T>A	ENSP00000268097.5:p.Phe495Tyr
ENST00000379915.4:c.566T>A	ENSP00000478716.1:p.Phe189Tyr
ENST00000564677.5:n.276T>A
ENST00000565873.1:n.395T>A
ENST00000566304.5:c.1517T>A	ENSP00000455114.1:p.Phe506Tyr
ENST00000567027.5:c.1099T>A
ENST00000567159.5:c.1484T>A	ENSP00000456489.1:p.Phe495Tyr
ENST00000567411.5:c.*1005T>A	ENSP00000455545.1:n.*1005T>A
ENST00000568777.5:n.6704T>A
ENST00000569116.1:n.191T>A
NM_000520.4:c.1484T>A	NP_000511.2:p.Phe495Tyr
NM_000520.5:c.1484T>A	NP_000511.2:p.Phe495Tyr
NM_001318825.1:c.1517T>A	NP_001305754.1:p.Phe506Tyr
NR_134869.1:n.1728T>A
NM_000520.6:c.1484T>A MANE Select	NP_000511.2:p.Phe495Tyr
NM_001318825.2:c.1517T>A	NP_001305754.1:p.Phe506Tyr
NR_134869.2:n.1269T>A
NR_134869.3:n.1269T>A