Canonical Allele Identifier: CA16041734

Gene: HEXA

Linked Data

• ClinVar Variation Id: 370596
• ClinVar RCV Id: RCV000411081
• dbSNP Id: rs1057516617
• MyVariant Identifiers: chr15:g.72639048G>A (hg19) ; chr15:g.72346707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346707G>A , CM000677.2:g.72346707G>A	GRCh38
NC_000015.9:g.72639048G>A , CM000677.1:g.72639048G>A	GRCh37
NC_000015.8:g.70426102G>A	NCBI36
NG_009017.1:g.34473C>T
NG_009017.2:g.34473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-382C>T	ENSP00000457521.2:n.1074-382C>T
ENST00000682061.1:c.*812C>T	ENSP00000508316.1:n.*812C>T
ENST00000682064.1:n.492C>T
ENST00000682177.1:c.1193C>T	ENSP00000507409.1:n.1193C>T
ENST00000682235.1:n.489C>T
ENST00000682461.1:c.1256C>T	ENSP00000507308.1:n.1256C>T
ENST00000682653.1:n.1470C>T
ENST00000682657.1:c.*484-382C>T	ENSP00000507753.1:n.*484-382C>T
ENST00000682721.1:c.*953C>T	ENSP00000507535.1:n.*953C>T
ENST00000682843.1:c.*972-382C>T	ENSP00000508173.1:n.*972-382C>T
ENST00000683003.1:c.*484-382C>T	ENSP00000507576.1:n.*484-382C>T
ENST00000683133.1:c.1334C>T	ENSP00000508108.1:n.1334C>T
ENST00000683243.1:c.*484-382C>T	ENSP00000507042.1:n.*484-382C>T
ENST00000683463.1:c.1077C>T	ENSP00000507986.1:p.Phe359=
ENST00000683548.1:n.1105-382C>T
ENST00000683579.1:c.*1048C>T	ENSP00000506867.1:n.*1048C>T
ENST00000683587.1:n.1178-382C>T
ENST00000683681.1:c.1150C>T	ENSP00000508110.1:p.Gln384Ter
ENST00000683735.1:c.*1045-382C>T	ENSP00000508336.1:n.*1045-382C>T
ENST00000683853.1:c.1077C>T	ENSP00000506834.1:p.Phe359=
ENST00000683860.1:c.1150C>T	ENSP00000507179.1:p.Gln384Ter
ENST00000683884.1:c.1147-382C>T	ENSP00000507004.1:n.1147-382C>T
ENST00000684041.1:c.1150C>T	ENSP00000508382.1:p.Gln384Ter
ENST00000684125.1:c.1074-382C>T	ENSP00000507320.1:n.1074-382C>T
ENST00000684203.1:n.2915C>T
ENST00000684231.1:c.*560C>T	ENSP00000507748.1:n.*560C>T
ENST00000684263.1:c.*90C>T	ENSP00000508369.1:n.*90C>T
ENST00000684305.1:c.1598C>T	ENSP00000506819.1:n.1598C>T
ENST00000684415.1:c.*17C>T	ENSP00000507227.1:n.*17C>T
ENST00000684520.1:c.1150C>T	ENSP00000506826.1:p.Gln384Ter
ENST00000684602.1:c.*816C>T	ENSP00000507996.1:n.*816C>T
ENST00000684667.1:c.1481C>T	ENSP00000507003.1:n.1481C>T
ENST00000268097.10:c.1150C>T MANE Select	ENSP00000268097.6:p.Gln384Ter
ENST00000268097.9:c.1150C>T	ENSP00000268097.5:p.Gln384Ter
ENST00000379915.4:c.413-382C>T	ENSP00000478716.1:n.413-382C>T
ENST00000563762.5:c.826-382C>T	ENSP00000456346.1:n.826-382C>T
ENST00000566304.5:c.1183C>T	ENSP00000455114.1:p.Gln395Ter
ENST00000566672.5:c.*560C>T	ENSP00000457037.1:n.*560C>T
ENST00000567027.5:c.946-382C>T
ENST00000567159.5:c.1150C>T	ENSP00000456489.1:p.Gln384Ter
ENST00000567411.5:c.*671C>T	ENSP00000455545.1:n.*671C>T
ENST00000568777.5:n.6551-382C>T
ENST00000569410.5:c.1077C>T	ENSP00000457125.1:p.Phe359=
NM_000520.4:c.1150C>T	NP_000511.2:p.Gln384Ter
NM_000520.5:c.1150C>T	NP_000511.2:p.Gln384Ter
NM_001318825.1:c.1183C>T	NP_001305754.1:p.Gln395Ter
NR_134869.1:n.1575-382C>T
NM_000520.6:c.1150C>T MANE Select	NP_000511.2:p.Gln384Ter
NM_001318825.2:c.1183C>T	NP_001305754.1:p.Gln395Ter
NR_134869.2:n.1116-382C>T
NR_134869.3:n.1116-382C>T