Canonical Allele Identifier: CA393059222

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638621A>T (hg19) ; chr15:g.72346280A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346280A>T , CM000677.2:g.72346280A>T	GRCh38
NC_000015.9:g.72638621A>T , CM000677.1:g.72638621A>T	GRCh37
NC_000015.8:g.70425675A>T	NCBI36
NG_009017.1:g.34900T>A
NG_009017.2:g.34900T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*36T>A	ENSP00000457521.2:n.*36T>A
ENST00000682061.1:c.*1038T>A	ENSP00000508316.1:n.*1038T>A
ENST00000682064.1:n.919T>A
ENST00000682177.1:c.1419T>A	ENSP00000507409.1:n.1419T>A
ENST00000682235.1:n.715T>A
ENST00000682461.1:c.1482T>A	ENSP00000507308.1:n.1482T>A
ENST00000682653.1:n.1696T>A
ENST00000682657.1:c.*529T>A	ENSP00000507753.1:n.*529T>A
ENST00000682721.1:c.*1179T>A	ENSP00000507535.1:n.*1179T>A
ENST00000682843.1:c.*1017T>A	ENSP00000508173.1:n.*1017T>A
ENST00000683003.1:c.*529T>A	ENSP00000507576.1:n.*529T>A
ENST00000683133.1:c.1560T>A	ENSP00000508108.1:n.1560T>A
ENST00000683243.1:c.*529T>A	ENSP00000507042.1:n.*529T>A
ENST00000683463.1:c.*181T>A	ENSP00000507986.1:n.*181T>A
ENST00000683548.1:n.1150T>A
ENST00000683579.1:c.*1274T>A	ENSP00000506867.1:n.*1274T>A
ENST00000683587.1:n.1223T>A
ENST00000683681.1:c.1376T>A	ENSP00000508110.1:p.Met459Lys
ENST00000683735.1:c.*1090T>A	ENSP00000508336.1:n.*1090T>A
ENST00000683853.1:c.*181T>A	ENSP00000506834.1:n.*181T>A
ENST00000683860.1:c.1376T>A	ENSP00000507179.1:p.Met459Lys
ENST00000683884.1:c.*19T>A	ENSP00000507004.1:n.*19T>A
ENST00000684041.1:c.1376T>A	ENSP00000508382.1:p.Met459Lys
ENST00000684125.1:c.*36T>A	ENSP00000507320.1:n.*36T>A
ENST00000684203.1:n.3141T>A
ENST00000684231.1:c.*786T>A	ENSP00000507748.1:n.*786T>A
ENST00000684263.1:c.*316T>A	ENSP00000508369.1:n.*316T>A
ENST00000684305.1:c.1824T>A	ENSP00000506819.1:n.1824T>A
ENST00000684415.1:c.*243T>A	ENSP00000507227.1:n.*243T>A
ENST00000684520.1:c.1376T>A	ENSP00000506826.1:p.Met459Lys
ENST00000684602.1:c.*1042T>A	ENSP00000507996.1:n.*1042T>A
ENST00000684667.1:c.1707T>A	ENSP00000507003.1:n.1707T>A
ENST00000268097.10:c.1376T>A MANE Select	ENSP00000268097.6:p.Met459Lys
ENST00000268097.9:c.1376T>A	ENSP00000268097.5:p.Met459Lys
ENST00000379915.4:c.458T>A	ENSP00000478716.1:p.Met153Lys
ENST00000563762.5:c.871T>A	ENSP00000456346.1:n.871T>A
ENST00000566304.5:c.1409T>A	ENSP00000455114.1:p.Met470Lys
ENST00000566672.5:c.*786T>A	ENSP00000457037.1:n.*786T>A
ENST00000567027.5:c.991T>A
ENST00000567159.5:c.1376T>A	ENSP00000456489.1:p.Met459Lys
ENST00000567411.5:c.*897T>A	ENSP00000455545.1:n.*897T>A
ENST00000568777.5:n.6596T>A
ENST00000569410.5:c.*181T>A	ENSP00000457125.1:n.*181T>A
NM_000520.4:c.1376T>A	NP_000511.2:p.Met459Lys
NM_000520.5:c.1376T>A	NP_000511.2:p.Met459Lys
NM_001318825.1:c.1409T>A	NP_001305754.1:p.Met470Lys
NR_134869.1:n.1620T>A
NM_000520.6:c.1376T>A MANE Select	NP_000511.2:p.Met459Lys
NM_001318825.2:c.1409T>A	NP_001305754.1:p.Met470Lys
NR_134869.2:n.1161T>A
NR_134869.3:n.1161T>A