Canonical Allele Identifier: CA491117905

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72639071G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346730G>A , CM000677.2:g.72346730G>A	GRCh38
NC_000015.9:g.72639071G>A , CM000677.1:g.72639071G>A	GRCh37
NC_000015.8:g.70426125G>A	NCBI36
NG_009017.1:g.34450C>T
NG_009017.2:g.34450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-405C>T	ENSP00000457521.2:n.1074-405C>T
ENST00000682061.1:c.*809-20C>T	ENSP00000508316.1:n.*809-20C>T
ENST00000682064.1:n.469C>T
ENST00000682177.1:c.1190-20C>T	ENSP00000507409.1:n.1190-20C>T
ENST00000682235.1:n.466C>T
ENST00000682461.1:c.1253-20C>T	ENSP00000507308.1:n.1253-20C>T
ENST00000682653.1:n.1467-20C>T
ENST00000682657.1:c.*484-405C>T	ENSP00000507753.1:n.*484-405C>T
ENST00000682721.1:c.*950-20C>T	ENSP00000507535.1:n.*950-20C>T
ENST00000682843.1:c.*972-405C>T	ENSP00000508173.1:n.*972-405C>T
ENST00000683003.1:c.*484-405C>T	ENSP00000507576.1:n.*484-405C>T
ENST00000683133.1:c.1331-20C>T	ENSP00000508108.1:n.1331-20C>T
ENST00000683243.1:c.*484-405C>T	ENSP00000507042.1:n.*484-405C>T
ENST00000683463.1:c.1074-20C>T	ENSP00000507986.1:n.1074-20C>T
ENST00000683548.1:n.1105-405C>T
ENST00000683579.1:c.*1045-20C>T	ENSP00000506867.1:n.*1045-20C>T
ENST00000683587.1:n.1178-405C>T
ENST00000683681.1:c.1147-20C>T	ENSP00000508110.1:n.1147-20C>T
ENST00000683735.1:c.*1045-405C>T	ENSP00000508336.1:n.*1045-405C>T
ENST00000683853.1:c.1074-20C>T	ENSP00000506834.1:n.1074-20C>T
ENST00000683860.1:c.1147-20C>T	ENSP00000507179.1:n.1147-20C>T
ENST00000683884.1:c.1147-405C>T	ENSP00000507004.1:n.1147-405C>T
ENST00000684041.1:c.1147-20C>T	ENSP00000508382.1:n.1147-20C>T
ENST00000684125.1:c.1074-405C>T	ENSP00000507320.1:n.1074-405C>T
ENST00000684203.1:n.2912-20C>T
ENST00000684231.1:c.*557-20C>T	ENSP00000507748.1:n.*557-20C>T
ENST00000684263.1:c.*87-20C>T	ENSP00000508369.1:n.*87-20C>T
ENST00000684305.1:c.1595-20C>T	ENSP00000506819.1:n.1595-20C>T
ENST00000684415.1:c.*14-20C>T	ENSP00000507227.1:n.*14-20C>T
ENST00000684520.1:c.1147-20C>T	ENSP00000506826.1:n.1147-20C>T
ENST00000684602.1:c.*813-20C>T	ENSP00000507996.1:n.*813-20C>T
ENST00000684667.1:c.1478-20C>T	ENSP00000507003.1:n.1478-20C>T
ENST00000268097.10:c.1147-20C>T MANE Select	ENSP00000268097.6:n.1147-20C>T
ENST00000268097.9:c.1147-20C>T	ENSP00000268097.5:n.1147-20C>T
ENST00000379915.4:c.413-405C>T	ENSP00000478716.1:n.413-405C>T
ENST00000563762.5:c.826-405C>T	ENSP00000456346.1:n.826-405C>T
ENST00000566304.5:c.1180-20C>T	ENSP00000455114.1:n.1180-20C>T
ENST00000566672.5:c.*557-20C>T	ENSP00000457037.1:n.*557-20C>T
ENST00000567027.5:c.946-405C>T
ENST00000567159.5:c.1147-20C>T	ENSP00000456489.1:n.1147-20C>T
ENST00000567411.5:c.*668-20C>T	ENSP00000455545.1:n.*668-20C>T
ENST00000568777.5:n.6551-405C>T
ENST00000569410.5:c.1074-20C>T	ENSP00000457125.1:n.1074-20C>T
NM_000520.4:c.1147-20C>T	NP_000511.2:n.1147-20C>T
NM_000520.5:c.1147-20C>T	NP_000511.2:n.1147-20C>T
NM_001318825.1:c.1180-20C>T	NP_001305754.1:n.1180-20C>T
NR_134869.1:n.1575-405C>T
NM_000520.6:c.1147-20C>T MANE Select	NP_000511.2:n.1147-20C>T
NM_001318825.2:c.1180-20C>T	NP_001305754.1:n.1180-20C>T
NR_134869.2:n.1116-405C>T
NR_134869.3:n.1116-405C>T