Canonical Allele Identifier: CA393058910

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637887T>A (hg19) ; chr15:g.72345546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345546T>A , CM000677.2:g.72345546T>A	GRCh38
NC_000015.9:g.72637887T>A , CM000677.1:g.72637887T>A	GRCh37
NC_000015.8:g.70424941T>A	NCBI36
NG_009017.1:g.35634A>T
NG_009017.2:g.35634A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*86A>T	ENSP00000457521.2:n.*86A>T
ENST00000682061.1:c.*1772A>T	ENSP00000508316.1:n.*1772A>T
ENST00000682064.1:n.1653A>T
ENST00000682177.1:c.1469A>T	ENSP00000507409.1:n.1469A>T
ENST00000682235.1:n.1449A>T
ENST00000682461.1:c.1532A>T	ENSP00000507308.1:n.1532A>T
ENST00000682653.1:n.2430A>T
ENST00000682657.1:c.*1263A>T	ENSP00000507753.1:n.*1263A>T
ENST00000682721.1:c.*1229A>T	ENSP00000507535.1:n.*1229A>T
ENST00000682843.1:c.*1067A>T	ENSP00000508173.1:n.*1067A>T
ENST00000683003.1:c.*1263A>T	ENSP00000507576.1:n.*1263A>T
ENST00000683133.1:c.1610A>T	ENSP00000508108.1:n.1610A>T
ENST00000683243.1:c.*579A>T	ENSP00000507042.1:n.*579A>T
ENST00000683463.1:c.*915A>T	ENSP00000507986.1:n.*915A>T
ENST00000683548.1:n.1884A>T
ENST00000683579.1:c.*1324A>T	ENSP00000506867.1:n.*1324A>T
ENST00000683587.1:n.1957A>T
ENST00000683681.1:c.*104A>T	ENSP00000508110.1:n.*104A>T
ENST00000683735.1:c.*1824A>T	ENSP00000508336.1:n.*1824A>T
ENST00000683853.1:c.*231A>T	ENSP00000506834.1:n.*231A>T
ENST00000683860.1:c.*546A>T	ENSP00000507179.1:n.*546A>T
ENST00000683884.1:c.*753A>T	ENSP00000507004.1:n.*753A>T
ENST00000684041.1:c.*559A>T	ENSP00000508382.1:n.*559A>T
ENST00000684125.1:c.*86A>T	ENSP00000507320.1:n.*86A>T
ENST00000684203.1:n.3875A>T
ENST00000684231.1:c.*836A>T	ENSP00000507748.1:n.*836A>T
ENST00000684263.1:c.*1050A>T	ENSP00000508369.1:n.*1050A>T
ENST00000684305.1:c.1874A>T	ENSP00000506819.1:n.1874A>T
ENST00000684415.1:c.*977A>T	ENSP00000507227.1:n.*977A>T
ENST00000684520.1:c.*685A>T	ENSP00000506826.1:n.*685A>T
ENST00000684602.1:c.*1092A>T	ENSP00000507996.1:n.*1092A>T
ENST00000684667.1:c.1757A>T	ENSP00000507003.1:n.1757A>T
ENST00000268097.10:c.1426A>T MANE Select	ENSP00000268097.6:p.Arg476Ter
ENST00000268097.9:c.1426A>T	ENSP00000268097.5:p.Arg476Ter
ENST00000379915.4:c.508A>T	ENSP00000478716.1:p.Arg170Ter
ENST00000564677.5:n.218A>T
ENST00000565873.1:n.337A>T
ENST00000566304.5:c.1459A>T	ENSP00000455114.1:p.Arg487Ter
ENST00000567027.5:c.1041A>T
ENST00000567159.5:c.1426A>T	ENSP00000456489.1:p.Arg476Ter
ENST00000567411.5:c.*947A>T	ENSP00000455545.1:n.*947A>T
ENST00000568777.5:n.6646A>T
ENST00000569116.1:n.133A>T
NM_000520.4:c.1426A>T	NP_000511.2:p.Arg476Ter
NM_000520.5:c.1426A>T	NP_000511.2:p.Arg476Ter
NM_001318825.1:c.1459A>T	NP_001305754.1:p.Arg487Ter
NR_134869.1:n.1670A>T
NM_000520.6:c.1426A>T MANE Select	NP_000511.2:p.Arg476Ter
NM_001318825.2:c.1459A>T	NP_001305754.1:p.Arg487Ter
NR_134869.2:n.1211A>T
NR_134869.3:n.1211A>T