Canonical Allele Identifier: CA393058917

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637889G>T (hg19) ; chr15:g.72345548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345548G>T , CM000677.2:g.72345548G>T	GRCh38
NC_000015.9:g.72637889G>T , CM000677.1:g.72637889G>T	GRCh37
NC_000015.8:g.70424943G>T	NCBI36
NG_009017.1:g.35632C>A
NG_009017.2:g.35632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*84C>A	ENSP00000457521.2:n.*84C>A
ENST00000682061.1:c.*1770C>A	ENSP00000508316.1:n.*1770C>A
ENST00000682064.1:n.1651C>A
ENST00000682177.1:c.1467C>A	ENSP00000507409.1:n.1467C>A
ENST00000682235.1:n.1447C>A
ENST00000682461.1:c.1530C>A	ENSP00000507308.1:n.1530C>A
ENST00000682653.1:n.2428C>A
ENST00000682657.1:c.*1261C>A	ENSP00000507753.1:n.*1261C>A
ENST00000682721.1:c.*1227C>A	ENSP00000507535.1:n.*1227C>A
ENST00000682843.1:c.*1065C>A	ENSP00000508173.1:n.*1065C>A
ENST00000683003.1:c.*1261C>A	ENSP00000507576.1:n.*1261C>A
ENST00000683133.1:c.1608C>A	ENSP00000508108.1:n.1608C>A
ENST00000683243.1:c.*577C>A	ENSP00000507042.1:n.*577C>A
ENST00000683463.1:c.*913C>A	ENSP00000507986.1:n.*913C>A
ENST00000683548.1:n.1882C>A
ENST00000683579.1:c.*1322C>A	ENSP00000506867.1:n.*1322C>A
ENST00000683587.1:n.1955C>A
ENST00000683681.1:c.*102C>A	ENSP00000508110.1:n.*102C>A
ENST00000683735.1:c.*1822C>A	ENSP00000508336.1:n.*1822C>A
ENST00000683853.1:c.*229C>A	ENSP00000506834.1:n.*229C>A
ENST00000683860.1:c.*544C>A	ENSP00000507179.1:n.*544C>A
ENST00000683884.1:c.*751C>A	ENSP00000507004.1:n.*751C>A
ENST00000684041.1:c.*557C>A	ENSP00000508382.1:n.*557C>A
ENST00000684125.1:c.*84C>A	ENSP00000507320.1:n.*84C>A
ENST00000684203.1:n.3873C>A
ENST00000684231.1:c.*834C>A	ENSP00000507748.1:n.*834C>A
ENST00000684263.1:c.*1048C>A	ENSP00000508369.1:n.*1048C>A
ENST00000684305.1:c.1872C>A	ENSP00000506819.1:n.1872C>A
ENST00000684415.1:c.*975C>A	ENSP00000507227.1:n.*975C>A
ENST00000684520.1:c.*683C>A	ENSP00000506826.1:n.*683C>A
ENST00000684602.1:c.*1090C>A	ENSP00000507996.1:n.*1090C>A
ENST00000684667.1:c.1755C>A	ENSP00000507003.1:n.1755C>A
ENST00000268097.10:c.1424C>A MANE Select	ENSP00000268097.6:p.Pro475His
ENST00000268097.9:c.1424C>A	ENSP00000268097.5:p.Pro475His
ENST00000379915.4:c.506C>A	ENSP00000478716.1:p.Pro169His
ENST00000564677.5:n.216C>A
ENST00000565873.1:n.335C>A
ENST00000566304.5:c.1457C>A	ENSP00000455114.1:p.Pro486His
ENST00000567027.5:c.1039C>A
ENST00000567159.5:c.1424C>A	ENSP00000456489.1:p.Pro475His
ENST00000567411.5:c.*945C>A	ENSP00000455545.1:n.*945C>A
ENST00000568777.5:n.6644C>A
ENST00000569116.1:n.131C>A
NM_000520.4:c.1424C>A	NP_000511.2:p.Pro475His
NM_000520.5:c.1424C>A	NP_000511.2:p.Pro475His
NM_001318825.1:c.1457C>A	NP_001305754.1:p.Pro486His
NR_134869.1:n.1668C>A
NM_000520.6:c.1424C>A MANE Select	NP_000511.2:p.Pro475His
NM_001318825.2:c.1457C>A	NP_001305754.1:p.Pro486His
NR_134869.2:n.1209C>A
NR_134869.3:n.1209C>A