Canonical Allele Identifier: CA491112779

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638058G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345717G>A , CM000677.2:g.72345717G>A	GRCh38
NC_000015.9:g.72638058G>A , CM000677.1:g.72638058G>A	GRCh37
NC_000015.8:g.70425112G>A	NCBI36
NG_009017.1:g.35463C>T
NG_009017.2:g.35463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-167C>T	ENSP00000457521.2:n.*82-167C>T
ENST00000682061.1:c.*1601C>T	ENSP00000508316.1:n.*1601C>T
ENST00000682064.1:n.1482C>T
ENST00000682177.1:c.1465-167C>T	ENSP00000507409.1:n.1465-167C>T
ENST00000682235.1:n.1278C>T
ENST00000682461.1:c.1528-167C>T	ENSP00000507308.1:n.1528-167C>T
ENST00000682653.1:n.2259C>T
ENST00000682657.1:c.*1092C>T	ENSP00000507753.1:n.*1092C>T
ENST00000682721.1:c.*1225-167C>T	ENSP00000507535.1:n.*1225-167C>T
ENST00000682843.1:c.*1063-167C>T	ENSP00000508173.1:n.*1063-167C>T
ENST00000683003.1:c.*1092C>T	ENSP00000507576.1:n.*1092C>T
ENST00000683133.1:c.1606-167C>T	ENSP00000508108.1:n.1606-167C>T
ENST00000683243.1:c.*575-167C>T	ENSP00000507042.1:n.*575-167C>T
ENST00000683463.1:c.*744C>T	ENSP00000507986.1:n.*744C>T
ENST00000683548.1:n.1713C>T
ENST00000683579.1:c.*1320-167C>T	ENSP00000506867.1:n.*1320-167C>T
ENST00000683587.1:n.1786C>T
ENST00000683681.1:c.*59C>T	ENSP00000508110.1:n.*59C>T
ENST00000683735.1:c.*1653C>T	ENSP00000508336.1:n.*1653C>T
ENST00000683853.1:c.*227-167C>T	ENSP00000506834.1:n.*227-167C>T
ENST00000683860.1:c.*375C>T	ENSP00000507179.1:n.*375C>T
ENST00000683884.1:c.*582C>T	ENSP00000507004.1:n.*582C>T
ENST00000684041.1:c.*514C>T	ENSP00000508382.1:n.*514C>T
ENST00000684125.1:c.*82-167C>T	ENSP00000507320.1:n.*82-167C>T
ENST00000684203.1:n.3704C>T
ENST00000684231.1:c.*832-167C>T	ENSP00000507748.1:n.*832-167C>T
ENST00000684263.1:c.*879C>T	ENSP00000508369.1:n.*879C>T
ENST00000684305.1:c.1870-167C>T	ENSP00000506819.1:n.1870-167C>T
ENST00000684415.1:c.*806C>T	ENSP00000507227.1:n.*806C>T
ENST00000684520.1:c.*514C>T	ENSP00000506826.1:n.*514C>T
ENST00000684602.1:c.*1088-167C>T	ENSP00000507996.1:n.*1088-167C>T
ENST00000684667.1:c.1753-167C>T	ENSP00000507003.1:n.1753-167C>T
ENST00000268097.10:c.1422-167C>T MANE Select	ENSP00000268097.6:n.1422-167C>T
ENST00000268097.9:c.1422-167C>T	ENSP00000268097.5:n.1422-167C>T
ENST00000379915.4:c.504-167C>T	ENSP00000478716.1:n.504-167C>T
ENST00000564677.5:n.173C>T
ENST00000565873.1:n.166C>T
ENST00000566304.5:c.1455-167C>T	ENSP00000455114.1:n.1455-167C>T
ENST00000567027.5:c.1037-167C>T
ENST00000567159.5:c.1422-167C>T	ENSP00000456489.1:n.1422-167C>T
ENST00000567411.5:c.*943-167C>T	ENSP00000455545.1:n.*943-167C>T
ENST00000568777.5:n.6642-167C>T
ENST00000569116.1:n.88C>T
NM_000520.4:c.1422-167C>T	NP_000511.2:n.1422-167C>T
NM_000520.5:c.1422-167C>T	NP_000511.2:n.1422-167C>T
NM_001318825.1:c.1455-167C>T	NP_001305754.1:n.1455-167C>T
NR_134869.1:n.1666-167C>T
NM_000520.6:c.1422-167C>T MANE Select	NP_000511.2:n.1422-167C>T
NM_001318825.2:c.1455-167C>T	NP_001305754.1:n.1455-167C>T
NR_134869.2:n.1207-167C>T
NR_134869.3:n.1207-167C>T