Canonical Allele Identifier: CA2186743372

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345749G= , CM000677.2:g.72345749G=	GRCh38
NC_000015.9:g.72638090G= , CM000677.1:g.72638090G=	GRCh37
NC_000015.8:g.70425144G=	NCBI36
NG_009017.1:g.35431C=
NG_009017.2:g.35431C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-199C=	ENSP00000457521.2:n.*82-199C=
ENST00000682061.1:c.*1569C=	ENSP00000508316.1:n.*1569C=
ENST00000682064.1:n.1450C=
ENST00000682177.1:c.1465-199C=	ENSP00000507409.1:n.1465-199C=
ENST00000682235.1:n.1246C=
ENST00000682461.1:c.1528-199C=	ENSP00000507308.1:n.1528-199C=
ENST00000682653.1:n.2227C=
ENST00000682657.1:c.*1060C=	ENSP00000507753.1:n.*1060C=
ENST00000682721.1:c.*1225-199C=	ENSP00000507535.1:n.*1225-199C=
ENST00000682843.1:c.*1063-199C=	ENSP00000508173.1:n.*1063-199C=
ENST00000683003.1:c.*1060C=	ENSP00000507576.1:n.*1060C=
ENST00000683133.1:c.1606-199C=	ENSP00000508108.1:n.1606-199C=
ENST00000683243.1:c.*575-199C=	ENSP00000507042.1:n.*575-199C=
ENST00000683463.1:c.*712C=	ENSP00000507986.1:n.*712C=
ENST00000683548.1:n.1681C=
ENST00000683579.1:c.*1320-199C=	ENSP00000506867.1:n.*1320-199C=
ENST00000683587.1:n.1754C=
ENST00000683681.1:c.*27C=	ENSP00000508110.1:n.*27C=
ENST00000683735.1:c.*1621C=	ENSP00000508336.1:n.*1621C=
ENST00000683853.1:c.*227-199C=	ENSP00000506834.1:n.*227-199C=
ENST00000683860.1:c.*343C=	ENSP00000507179.1:n.*343C=
ENST00000683884.1:c.*550C=	ENSP00000507004.1:n.*550C=
ENST00000684041.1:c.*482C=	ENSP00000508382.1:n.*482C=
ENST00000684125.1:c.*82-199C=	ENSP00000507320.1:n.*82-199C=
ENST00000684203.1:n.3672C=
ENST00000684231.1:c.*832-199C=	ENSP00000507748.1:n.*832-199C=
ENST00000684263.1:c.*847C=	ENSP00000508369.1:n.*847C=
ENST00000684305.1:c.1870-199C=	ENSP00000506819.1:n.1870-199C=
ENST00000684415.1:c.*774C=	ENSP00000507227.1:n.*774C=
ENST00000684520.1:c.*482C=	ENSP00000506826.1:n.*482C=
ENST00000684602.1:c.*1088-199C=	ENSP00000507996.1:n.*1088-199C=
ENST00000684667.1:c.1753-199C=	ENSP00000507003.1:n.1753-199C=
ENST00000268097.10:c.1422-199C= MANE Select	ENSP00000268097.6:n.1422-199C=
ENST00000268097.9:c.1422-199C=	ENSP00000268097.5:n.1422-199C=
ENST00000379915.4:c.504-199C=	ENSP00000478716.1:n.504-199C=
ENST00000564677.5:n.141C=
ENST00000565873.1:n.134C=
ENST00000566304.5:c.1455-199C=	ENSP00000455114.1:n.1455-199C=
ENST00000567027.5:c.1037-199C=
ENST00000567159.5:c.1422-199C=	ENSP00000456489.1:n.1422-199C=
ENST00000567411.5:c.*943-199C=	ENSP00000455545.1:n.*943-199C=
ENST00000568777.5:n.6642-199C=
ENST00000569116.1:n.56C=
NM_000520.4:c.1422-199C=	NP_000511.2:n.1422-199C=
NM_000520.5:c.1422-199C=	NP_000511.2:n.1422-199C=
NM_001318825.1:c.1455-199C=	NP_001305754.1:n.1455-199C=
NR_134869.1:n.1666-199C=
NM_000520.6:c.1422-199C= MANE Select	NP_000511.2:n.1422-199C=
NM_001318825.2:c.1455-199C=	NP_001305754.1:n.1455-199C=
NR_134869.2:n.1207-199C=
NR_134869.3:n.1207-199C=