Canonical Allele Identifier: CA2186743306

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345564G= , CM000677.2:g.72345564G=	GRCh38
NC_000015.9:g.72637905G= , CM000677.1:g.72637905G=	GRCh37
NC_000015.8:g.70424959G=	NCBI36
NG_009017.1:g.35616C=
NG_009017.2:g.35616C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-14C=	ENSP00000457521.2:n.*82-14C=
ENST00000682061.1:c.*1754C=	ENSP00000508316.1:n.*1754C=
ENST00000682064.1:n.1635C=
ENST00000682177.1:c.1465-14C=	ENSP00000507409.1:n.1465-14C=
ENST00000682235.1:n.1431C=
ENST00000682461.1:c.1528-14C=	ENSP00000507308.1:n.1528-14C=
ENST00000682653.1:n.2412C=
ENST00000682657.1:c.*1245C=	ENSP00000507753.1:n.*1245C=
ENST00000682721.1:c.*1225-14C=	ENSP00000507535.1:n.*1225-14C=
ENST00000682843.1:c.*1063-14C=	ENSP00000508173.1:n.*1063-14C=
ENST00000683003.1:c.*1245C=	ENSP00000507576.1:n.*1245C=
ENST00000683133.1:c.1606-14C=	ENSP00000508108.1:n.1606-14C=
ENST00000683243.1:c.*575-14C=	ENSP00000507042.1:n.*575-14C=
ENST00000683463.1:c.*897C=	ENSP00000507986.1:n.*897C=
ENST00000683548.1:n.1866C=
ENST00000683579.1:c.*1320-14C=	ENSP00000506867.1:n.*1320-14C=
ENST00000683587.1:n.1939C=
ENST00000683681.1:c.*100-14C=	ENSP00000508110.1:n.*100-14C=
ENST00000683735.1:c.*1806C=	ENSP00000508336.1:n.*1806C=
ENST00000683853.1:c.*227-14C=	ENSP00000506834.1:n.*227-14C=
ENST00000683860.1:c.*528C=	ENSP00000507179.1:n.*528C=
ENST00000683884.1:c.*735C=	ENSP00000507004.1:n.*735C=
ENST00000684041.1:c.*555-14C=	ENSP00000508382.1:n.*555-14C=
ENST00000684125.1:c.*82-14C=	ENSP00000507320.1:n.*82-14C=
ENST00000684203.1:n.3857C=
ENST00000684231.1:c.*832-14C=	ENSP00000507748.1:n.*832-14C=
ENST00000684263.1:c.*1032C=	ENSP00000508369.1:n.*1032C=
ENST00000684305.1:c.1870-14C=	ENSP00000506819.1:n.1870-14C=
ENST00000684415.1:c.*959C=	ENSP00000507227.1:n.*959C=
ENST00000684520.1:c.*667C=	ENSP00000506826.1:n.*667C=
ENST00000684602.1:c.*1088-14C=	ENSP00000507996.1:n.*1088-14C=
ENST00000684667.1:c.1753-14C=	ENSP00000507003.1:n.1753-14C=
ENST00000268097.10:c.1422-14C= MANE Select	ENSP00000268097.6:n.1422-14C=
ENST00000268097.9:c.1422-14C=	ENSP00000268097.5:n.1422-14C=
ENST00000379915.4:c.504-14C=	ENSP00000478716.1:n.504-14C=
ENST00000564677.5:n.214-14C=
ENST00000565873.1:n.319C=
ENST00000566304.5:c.1455-14C=	ENSP00000455114.1:n.1455-14C=
ENST00000567027.5:c.1037-14C=
ENST00000567159.5:c.1422-14C=	ENSP00000456489.1:n.1422-14C=
ENST00000567411.5:c.*943-14C=	ENSP00000455545.1:n.*943-14C=
ENST00000568777.5:n.6642-14C=
ENST00000569116.1:n.129-14C=
NM_000520.4:c.1422-14C=	NP_000511.2:n.1422-14C=
NM_000520.5:c.1422-14C=	NP_000511.2:n.1422-14C=
NM_001318825.1:c.1455-14C=	NP_001305754.1:n.1455-14C=
NR_134869.1:n.1666-14C=
NM_000520.6:c.1422-14C= MANE Select	NP_000511.2:n.1422-14C=
NM_001318825.2:c.1455-14C=	NP_001305754.1:n.1455-14C=
NR_134869.2:n.1207-14C=
NR_134869.3:n.1207-14C=