Canonical Allele Identifier: CA393061007

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638972T>A (hg19) ; chr15:g.72346631T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346631T>A , CM000677.2:g.72346631T>A	GRCh38
NC_000015.9:g.72638972T>A , CM000677.1:g.72638972T>A	GRCh37
NC_000015.8:g.70426026T>A	NCBI36
NG_009017.1:g.34549A>T
NG_009017.2:g.34549A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1074-306A>T	ENSP00000457521.2:n.1074-306A>T
ENST00000682061.1:c.*888A>T	ENSP00000508316.1:n.*888A>T
ENST00000682064.1:n.568A>T
ENST00000682177.1:c.1269A>T	ENSP00000507409.1:n.1269A>T
ENST00000682235.1:n.565A>T
ENST00000682461.1:c.1332A>T	ENSP00000507308.1:n.1332A>T
ENST00000682653.1:n.1546A>T
ENST00000682657.1:c.*484-306A>T	ENSP00000507753.1:n.*484-306A>T
ENST00000682721.1:c.*1029A>T	ENSP00000507535.1:n.*1029A>T
ENST00000682843.1:c.*972-306A>T	ENSP00000508173.1:n.*972-306A>T
ENST00000683003.1:c.*484-306A>T	ENSP00000507576.1:n.*484-306A>T
ENST00000683133.1:c.1410A>T	ENSP00000508108.1:n.1410A>T
ENST00000683243.1:c.*484-306A>T	ENSP00000507042.1:n.*484-306A>T
ENST00000683463.1:c.*31A>T	ENSP00000507986.1:n.*31A>T
ENST00000683548.1:n.1105-306A>T
ENST00000683579.1:c.*1124A>T	ENSP00000506867.1:n.*1124A>T
ENST00000683587.1:n.1178-306A>T
ENST00000683681.1:c.1226A>T	ENSP00000508110.1:p.Lys409Met
ENST00000683735.1:c.*1045-306A>T	ENSP00000508336.1:n.*1045-306A>T
ENST00000683853.1:c.*31A>T	ENSP00000506834.1:n.*31A>T
ENST00000683860.1:c.1226A>T	ENSP00000507179.1:p.Lys409Met
ENST00000683884.1:c.1147-306A>T	ENSP00000507004.1:n.1147-306A>T
ENST00000684041.1:c.1226A>T	ENSP00000508382.1:p.Lys409Met
ENST00000684125.1:c.1074-306A>T	ENSP00000507320.1:n.1074-306A>T
ENST00000684203.1:n.2991A>T
ENST00000684231.1:c.*636A>T	ENSP00000507748.1:n.*636A>T
ENST00000684263.1:c.*166A>T	ENSP00000508369.1:n.*166A>T
ENST00000684305.1:c.1674A>T	ENSP00000506819.1:n.1674A>T
ENST00000684415.1:c.*93A>T	ENSP00000507227.1:n.*93A>T
ENST00000684520.1:c.1226A>T	ENSP00000506826.1:p.Lys409Met
ENST00000684602.1:c.*892A>T	ENSP00000507996.1:n.*892A>T
ENST00000684667.1:c.1557A>T	ENSP00000507003.1:n.1557A>T
ENST00000268097.10:c.1226A>T MANE Select	ENSP00000268097.6:p.Lys409Met
ENST00000268097.9:c.1226A>T	ENSP00000268097.5:p.Lys409Met
ENST00000379915.4:c.413-306A>T	ENSP00000478716.1:n.413-306A>T
ENST00000563762.5:c.826-306A>T	ENSP00000456346.1:n.826-306A>T
ENST00000566304.5:c.1259A>T	ENSP00000455114.1:p.Lys420Met
ENST00000566672.5:c.*636A>T	ENSP00000457037.1:n.*636A>T
ENST00000567027.5:c.946-306A>T
ENST00000567159.5:c.1226A>T	ENSP00000456489.1:p.Lys409Met
ENST00000567411.5:c.*747A>T	ENSP00000455545.1:n.*747A>T
ENST00000568777.5:n.6551-306A>T
ENST00000569410.5:c.*31A>T	ENSP00000457125.1:n.*31A>T
NM_000520.4:c.1226A>T	NP_000511.2:p.Lys409Met
NM_000520.5:c.1226A>T	NP_000511.2:p.Lys409Met
NM_001318825.1:c.1259A>T	NP_001305754.1:p.Lys420Met
NR_134869.1:n.1575-306A>T
NM_000520.6:c.1226A>T MANE Select	NP_000511.2:p.Lys409Met
NM_001318825.2:c.1259A>T	NP_001305754.1:p.Lys420Met
NR_134869.2:n.1116-306A>T
NR_134869.3:n.1116-306A>T