Canonical Allele Identifier: CA393066766

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72647949A>C (hg19) ; chr15:g.72355608A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72355608A>C , CM000677.2:g.72355608A>C	GRCh38
NC_000015.9:g.72647949A>C , CM000677.1:g.72647949A>C	GRCh37
NC_000015.8:g.70435003A>C	NCBI36
NG_009017.1:g.25572T>G
NG_009017.2:g.25572T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.376T>G
ENST00000567027.6:c.363T>G	ENSP00000457521.2:p.Asn121Lys
ENST00000568260.2:c.430T>G	ENSP00000458128.2:n.430T>G
ENST00000682061.1:c.*25T>G	ENSP00000508316.1:n.*25T>G
ENST00000682177.1:c.363T>G	ENSP00000507409.1:p.Asn121Lys
ENST00000682461.1:c.627T>G	ENSP00000507308.1:n.627T>G
ENST00000682653.1:n.394T>G
ENST00000682657.1:c.254-4374T>G	ENSP00000507753.1:n.254-4374T>G
ENST00000682721.1:c.*166T>G	ENSP00000507535.1:n.*166T>G
ENST00000682843.1:c.*261T>G	ENSP00000508173.1:n.*261T>G
ENST00000683003.1:c.363T>G	ENSP00000507576.1:p.Asn121Lys
ENST00000683133.1:c.547T>G	ENSP00000508108.1:n.547T>G
ENST00000683228.1:n.394T>G
ENST00000683243.1:c.363T>G	ENSP00000507042.1:p.Asn121Lys
ENST00000683463.1:c.363T>G	ENSP00000507986.1:p.Asn121Lys
ENST00000683548.1:n.394T>G
ENST00000683579.1:c.*261T>G	ENSP00000506867.1:n.*261T>G
ENST00000683587.1:n.394T>G
ENST00000683681.1:c.363T>G	ENSP00000508110.1:p.Asn121Lys
ENST00000683735.1:c.*261T>G	ENSP00000508336.1:n.*261T>G
ENST00000683853.1:c.363T>G	ENSP00000506834.1:p.Asn121Lys
ENST00000683860.1:c.363T>G	ENSP00000507179.1:p.Asn121Lys
ENST00000683884.1:c.363T>G	ENSP00000507004.1:p.Asn121Lys
ENST00000684041.1:c.363T>G	ENSP00000508382.1:p.Asn121Lys
ENST00000684125.1:c.363T>G	ENSP00000507320.1:p.Asn121Lys
ENST00000684203.1:n.380T>G
ENST00000684231.1:c.363T>G	ENSP00000507748.1:p.Asn121Lys
ENST00000684263.1:c.363T>G	ENSP00000508369.1:p.Asn121Lys
ENST00000684305.1:c.811T>G	ENSP00000506819.1:n.811T>G
ENST00000684415.1:c.363T>G	ENSP00000507227.1:p.Asn121Lys
ENST00000684520.1:c.363T>G	ENSP00000506826.1:p.Asn121Lys
ENST00000684602.1:c.*187T>G	ENSP00000507996.1:n.*187T>G
ENST00000684667.1:c.694T>G	ENSP00000507003.1:n.694T>G
ENST00000268097.10:c.363T>G MANE Select	ENSP00000268097.6:p.Asn121Lys
ENST00000268097.9:c.363T>G	ENSP00000268097.5:p.Asn121Lys
ENST00000379915.4:c.363T>G	ENSP00000478716.1:p.Asn121Lys
ENST00000563762.5:c.454T>G	ENSP00000456346.1:n.454T>G
ENST00000563908.1:n.360T>G
ENST00000566304.5:c.396T>G	ENSP00000455114.1:p.Asn132Lys
ENST00000566672.5:c.363T>G	ENSP00000457037.1:p.Asn121Lys
ENST00000567027.5:c.235T>G
ENST00000567159.5:c.363T>G	ENSP00000456489.1:p.Asn121Lys
ENST00000567411.5:c.363T>G	ENSP00000455545.1:p.Asn121Lys
ENST00000568260.1:c.411T>G
ENST00000568777.5:n.3946T>G
ENST00000569410.5:c.363T>G	ENSP00000457125.1:p.Asn121Lys
ENST00000569509.5:n.368T>G
NM_000520.4:c.363T>G	NP_000511.2:p.Asn121Lys
NM_000520.5:c.363T>G	NP_000511.2:p.Asn121Lys
NM_001318825.1:c.396T>G	NP_001305754.1:p.Asn132Lys
NR_134869.1:n.864T>G
NM_000520.6:c.363T>G MANE Select	NP_000511.2:p.Asn121Lys
NM_001318825.2:c.396T>G	NP_001305754.1:p.Asn132Lys
NR_134869.2:n.405T>G
NR_134869.3:n.405T>G