Canonical Allele Identifier: CA393058652

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637827C>A (hg19) ; chr15:g.72345486C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345486C>A , CM000677.2:g.72345486C>A	GRCh38
NC_000015.9:g.72637827C>A , CM000677.1:g.72637827C>A	GRCh37
NC_000015.8:g.70424881C>A	NCBI36
NG_009017.1:g.35694G>T
NG_009017.2:g.35694G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*146G>T	ENSP00000457521.2:n.*146G>T
ENST00000682061.1:c.*1832G>T	ENSP00000508316.1:n.*1832G>T
ENST00000682064.1:n.1713G>T
ENST00000682177.1:c.1529G>T	ENSP00000507409.1:n.1529G>T
ENST00000682235.1:n.1509G>T
ENST00000682461.1:c.1592G>T	ENSP00000507308.1:n.1592G>T
ENST00000682653.1:n.2490G>T
ENST00000682657.1:c.*1323G>T	ENSP00000507753.1:n.*1323G>T
ENST00000682721.1:c.*1289G>T	ENSP00000507535.1:n.*1289G>T
ENST00000682843.1:c.*1127G>T	ENSP00000508173.1:n.*1127G>T
ENST00000683003.1:c.*1323G>T	ENSP00000507576.1:n.*1323G>T
ENST00000683133.1:c.1670G>T	ENSP00000508108.1:n.1670G>T
ENST00000683243.1:c.*639G>T	ENSP00000507042.1:n.*639G>T
ENST00000683463.1:c.*975G>T	ENSP00000507986.1:n.*975G>T
ENST00000683548.1:n.1944G>T
ENST00000683579.1:c.*1384G>T	ENSP00000506867.1:n.*1384G>T
ENST00000683587.1:n.2017G>T
ENST00000683681.1:c.*164G>T	ENSP00000508110.1:n.*164G>T
ENST00000683735.1:c.*1884G>T	ENSP00000508336.1:n.*1884G>T
ENST00000683853.1:c.*291G>T	ENSP00000506834.1:n.*291G>T
ENST00000683860.1:c.*606G>T	ENSP00000507179.1:n.*606G>T
ENST00000683884.1:c.*813G>T	ENSP00000507004.1:n.*813G>T
ENST00000684041.1:c.*619G>T	ENSP00000508382.1:n.*619G>T
ENST00000684125.1:c.*146G>T	ENSP00000507320.1:n.*146G>T
ENST00000684203.1:n.3935G>T
ENST00000684231.1:c.*896G>T	ENSP00000507748.1:n.*896G>T
ENST00000684263.1:c.*1110G>T	ENSP00000508369.1:n.*1110G>T
ENST00000684305.1:c.1934G>T	ENSP00000506819.1:n.1934G>T
ENST00000684415.1:c.*1037G>T	ENSP00000507227.1:n.*1037G>T
ENST00000684520.1:c.*745G>T	ENSP00000506826.1:n.*745G>T
ENST00000684602.1:c.*1152G>T	ENSP00000507996.1:n.*1152G>T
ENST00000684667.1:c.1817G>T	ENSP00000507003.1:n.1817G>T
ENST00000268097.10:c.1486G>T MANE Select	ENSP00000268097.6:p.Ala496Ser
ENST00000268097.9:c.1486G>T	ENSP00000268097.5:p.Ala496Ser
ENST00000379915.4:c.568G>T	ENSP00000478716.1:p.Ala190Ser
ENST00000564677.5:n.278G>T
ENST00000565873.1:n.397G>T
ENST00000566304.5:c.1519G>T	ENSP00000455114.1:p.Ala507Ser
ENST00000567027.5:c.1101G>T
ENST00000567159.5:c.1486G>T	ENSP00000456489.1:p.Ala496Ser
ENST00000567411.5:c.*1007G>T	ENSP00000455545.1:n.*1007G>T
ENST00000568777.5:n.6706G>T
ENST00000569116.1:n.193G>T
NM_000520.4:c.1486G>T	NP_000511.2:p.Ala496Ser
NM_000520.5:c.1486G>T	NP_000511.2:p.Ala496Ser
NM_001318825.1:c.1519G>T	NP_001305754.1:p.Ala507Ser
NR_134869.1:n.1730G>T
NM_000520.6:c.1486G>T MANE Select	NP_000511.2:p.Ala496Ser
NM_001318825.2:c.1519G>T	NP_001305754.1:p.Ala507Ser
NR_134869.2:n.1271G>T
NR_134869.3:n.1271G>T