Canonical Allele Identifier: CA2186743397

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345821C= , CM000677.2:g.72345821C=	GRCh38
NC_000015.9:g.72638162C= , CM000677.1:g.72638162C=	GRCh37
NC_000015.8:g.70425216C=	NCBI36
NG_009017.1:g.35359G=
NG_009017.2:g.35359G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-271G=	ENSP00000457521.2:n.*82-271G=
ENST00000682061.1:c.*1497G=	ENSP00000508316.1:n.*1497G=
ENST00000682064.1:n.1378G=
ENST00000682177.1:c.1465-271G=	ENSP00000507409.1:n.1465-271G=
ENST00000682235.1:n.1174G=
ENST00000682461.1:c.1528-271G=	ENSP00000507308.1:n.1528-271G=
ENST00000682653.1:n.2155G=
ENST00000682657.1:c.*988G=	ENSP00000507753.1:n.*988G=
ENST00000682721.1:c.*1225-271G=	ENSP00000507535.1:n.*1225-271G=
ENST00000682843.1:c.*1063-271G=	ENSP00000508173.1:n.*1063-271G=
ENST00000683003.1:c.*988G=	ENSP00000507576.1:n.*988G=
ENST00000683133.1:c.1606-271G=	ENSP00000508108.1:n.1606-271G=
ENST00000683243.1:c.*575-271G=	ENSP00000507042.1:n.*575-271G=
ENST00000683463.1:c.*640G=	ENSP00000507986.1:n.*640G=
ENST00000683548.1:n.1609G=
ENST00000683579.1:c.*1320-271G=	ENSP00000506867.1:n.*1320-271G=
ENST00000683587.1:n.1682G=
ENST00000683681.1:c.1422-45G=	ENSP00000508110.1:n.1422-45G=
ENST00000683735.1:c.*1549G=	ENSP00000508336.1:n.*1549G=
ENST00000683853.1:c.*227-271G=	ENSP00000506834.1:n.*227-271G=
ENST00000683860.1:c.*271G=	ENSP00000507179.1:n.*271G=
ENST00000683884.1:c.*478G=	ENSP00000507004.1:n.*478G=
ENST00000684041.1:c.*410G=	ENSP00000508382.1:n.*410G=
ENST00000684125.1:c.*82-271G=	ENSP00000507320.1:n.*82-271G=
ENST00000684203.1:n.3600G=
ENST00000684231.1:c.*832-271G=	ENSP00000507748.1:n.*832-271G=
ENST00000684263.1:c.*775G=	ENSP00000508369.1:n.*775G=
ENST00000684305.1:c.1870-271G=	ENSP00000506819.1:n.1870-271G=
ENST00000684415.1:c.*702G=	ENSP00000507227.1:n.*702G=
ENST00000684520.1:c.*410G=	ENSP00000506826.1:n.*410G=
ENST00000684602.1:c.*1088-271G=	ENSP00000507996.1:n.*1088-271G=
ENST00000684667.1:c.1753-271G=	ENSP00000507003.1:n.1753-271G=
ENST00000268097.10:c.1422-271G= MANE Select	ENSP00000268097.6:n.1422-271G=
ENST00000268097.9:c.1422-271G=	ENSP00000268097.5:n.1422-271G=
ENST00000379915.4:c.504-271G=	ENSP00000478716.1:n.504-271G=
ENST00000564677.5:n.69G=
ENST00000565873.1:n.62G=
ENST00000566304.5:c.1455-271G=	ENSP00000455114.1:n.1455-271G=
ENST00000567027.5:c.1037-271G=
ENST00000567159.5:c.1422-271G=	ENSP00000456489.1:n.1422-271G=
ENST00000567411.5:c.*943-271G=	ENSP00000455545.1:n.*943-271G=
ENST00000568777.5:n.6642-271G=
NM_000520.4:c.1422-271G=	NP_000511.2:n.1422-271G=
NM_000520.5:c.1422-271G=	NP_000511.2:n.1422-271G=
NM_001318825.1:c.1455-271G=	NP_001305754.1:n.1455-271G=
NR_134869.1:n.1666-271G=
NM_000520.6:c.1422-271G= MANE Select	NP_000511.2:n.1422-271G=
NM_001318825.2:c.1455-271G=	NP_001305754.1:n.1455-271G=
NR_134869.2:n.1207-271G=
NR_134869.3:n.1207-271G=