Canonical Allele Identifier: CA393063436

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72643479T>A (hg19) ; chr15:g.72351138T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72351138T>A , CM000677.2:g.72351138T>A	GRCh38
NC_000015.9:g.72643479T>A , CM000677.1:g.72643479T>A	GRCh37
NC_000015.8:g.70430533T>A	NCBI36
NG_009017.1:g.30042A>T
NG_009017.2:g.30042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3013A>T
ENST00000567027.6:c.667A>T	ENSP00000457521.2:p.Arg223Ter
ENST00000568260.2:c.687A>T	ENSP00000458128.2:n.687A>T
ENST00000682061.1:c.*329A>T	ENSP00000508316.1:n.*329A>T
ENST00000682177.1:c.667A>T	ENSP00000507409.1:p.Arg223Ter
ENST00000682461.1:c.773A>T	ENSP00000507308.1:n.773A>T
ENST00000682653.1:n.698A>T
ENST00000682657.1:c.*77A>T	ENSP00000507753.1:n.*77A>T
ENST00000682721.1:c.*470A>T	ENSP00000507535.1:n.*470A>T
ENST00000682843.1:c.*565A>T	ENSP00000508173.1:n.*565A>T
ENST00000683003.1:c.*77A>T	ENSP00000507576.1:n.*77A>T
ENST00000683133.1:c.851A>T	ENSP00000508108.1:n.851A>T
ENST00000683228.1:n.698A>T
ENST00000683243.1:c.*77A>T	ENSP00000507042.1:n.*77A>T
ENST00000683463.1:c.667A>T	ENSP00000507986.1:p.Arg223Ter
ENST00000683548.1:n.698A>T
ENST00000683579.1:c.*565A>T	ENSP00000506867.1:n.*565A>T
ENST00000683587.1:n.698A>T
ENST00000683681.1:c.667A>T	ENSP00000508110.1:p.Arg223Ter
ENST00000683735.1:c.*565A>T	ENSP00000508336.1:n.*565A>T
ENST00000683742.1:n.498A>T
ENST00000683853.1:c.667A>T	ENSP00000506834.1:p.Arg223Ter
ENST00000683860.1:c.667A>T	ENSP00000507179.1:p.Arg223Ter
ENST00000683884.1:c.667A>T	ENSP00000507004.1:p.Arg223Ter
ENST00000684041.1:c.667A>T	ENSP00000508382.1:p.Arg223Ter
ENST00000684125.1:c.667A>T	ENSP00000507320.1:p.Arg223Ter
ENST00000684203.1:n.2505A>T
ENST00000684231.1:c.*77A>T	ENSP00000507748.1:n.*77A>T
ENST00000684263.1:c.667A>T	ENSP00000508369.1:p.Arg223Ter
ENST00000684305.1:c.1115A>T	ENSP00000506819.1:n.1115A>T
ENST00000684415.1:c.667A>T	ENSP00000507227.1:p.Arg223Ter
ENST00000684520.1:c.667A>T	ENSP00000506826.1:p.Arg223Ter
ENST00000684602.1:c.*333A>T	ENSP00000507996.1:n.*333A>T
ENST00000684667.1:c.998A>T	ENSP00000507003.1:n.998A>T
ENST00000268097.10:c.667A>T MANE Select	ENSP00000268097.6:p.Arg223Ter
ENST00000268097.9:c.667A>T	ENSP00000268097.5:p.Arg223Ter
ENST00000379915.4:c.412+4421A>T	ENSP00000478716.1:n.412+4421A>T
ENST00000563762.5:c.600A>T	ENSP00000456346.1:n.600A>T
ENST00000566304.5:c.700A>T	ENSP00000455114.1:p.Arg234Ter
ENST00000566672.5:c.*77A>T	ENSP00000457037.1:n.*77A>T
ENST00000567027.5:c.539A>T
ENST00000567159.5:c.667A>T	ENSP00000456489.1:p.Arg223Ter
ENST00000567411.5:c.*188A>T	ENSP00000455545.1:n.*188A>T
ENST00000568260.1:c.668A>T
ENST00000568777.5:n.6071A>T
ENST00000569410.5:c.667A>T	ENSP00000457125.1:p.Arg223Ter
ENST00000569509.5:n.514A>T
NM_000520.4:c.667A>T	NP_000511.2:p.Arg223Ter
NM_000520.5:c.667A>T	NP_000511.2:p.Arg223Ter
NM_001318825.1:c.700A>T	NP_001305754.1:p.Arg234Ter
NR_134869.1:n.1168A>T
NM_000520.6:c.667A>T MANE Select	NP_000511.2:p.Arg223Ter
NM_001318825.2:c.700A>T	NP_001305754.1:p.Arg234Ter
NR_134869.2:n.709A>T
NR_134869.3:n.709A>T