Canonical Allele Identifier: CA491116982

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638914G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346573G>C , CM000677.2:g.72346573G>C	GRCh38
NC_000015.9:g.72638914G>C , CM000677.1:g.72638914G>C	GRCh37
NC_000015.8:g.70425968G>C	NCBI36
NG_009017.1:g.34607C>G
NG_009017.2:g.34607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-248C>G	ENSP00000457521.2:n.1074-248C>G
ENST00000682061.1:c.*946C>G	ENSP00000508316.1:n.*946C>G
ENST00000682064.1:n.626C>G
ENST00000682177.1:c.1327C>G	ENSP00000507409.1:n.1327C>G
ENST00000682235.1:n.623C>G
ENST00000682461.1:c.1390C>G	ENSP00000507308.1:n.1390C>G
ENST00000682653.1:n.1604C>G
ENST00000682657.1:c.*484-248C>G	ENSP00000507753.1:n.*484-248C>G
ENST00000682721.1:c.*1087C>G	ENSP00000507535.1:n.*1087C>G
ENST00000682843.1:c.*972-248C>G	ENSP00000508173.1:n.*972-248C>G
ENST00000683003.1:c.*484-248C>G	ENSP00000507576.1:n.*484-248C>G
ENST00000683133.1:c.1468C>G	ENSP00000508108.1:n.1468C>G
ENST00000683243.1:c.*484-248C>G	ENSP00000507042.1:n.*484-248C>G
ENST00000683463.1:c.*89C>G	ENSP00000507986.1:n.*89C>G
ENST00000683548.1:n.1105-248C>G
ENST00000683579.1:c.*1182C>G	ENSP00000506867.1:n.*1182C>G
ENST00000683587.1:n.1178-248C>G
ENST00000683681.1:c.1284C>G	ENSP00000508110.1:p.Gly428=
ENST00000683735.1:c.*1045-248C>G	ENSP00000508336.1:n.*1045-248C>G
ENST00000683853.1:c.*89C>G	ENSP00000506834.1:n.*89C>G
ENST00000683860.1:c.1284C>G	ENSP00000507179.1:p.Gly428=
ENST00000683884.1:c.1147-248C>G	ENSP00000507004.1:n.1147-248C>G
ENST00000684041.1:c.1284C>G	ENSP00000508382.1:p.Gly428=
ENST00000684125.1:c.1074-248C>G	ENSP00000507320.1:n.1074-248C>G
ENST00000684203.1:n.3049C>G
ENST00000684231.1:c.*694C>G	ENSP00000507748.1:n.*694C>G
ENST00000684263.1:c.*224C>G	ENSP00000508369.1:n.*224C>G
ENST00000684305.1:c.1732C>G	ENSP00000506819.1:n.1732C>G
ENST00000684415.1:c.*151C>G	ENSP00000507227.1:n.*151C>G
ENST00000684520.1:c.1284C>G	ENSP00000506826.1:p.Gly428=
ENST00000684602.1:c.*950C>G	ENSP00000507996.1:n.*950C>G
ENST00000684667.1:c.1615C>G	ENSP00000507003.1:n.1615C>G
ENST00000268097.10:c.1284C>G MANE Select	ENSP00000268097.6:p.Gly428=
ENST00000268097.9:c.1284C>G	ENSP00000268097.5:p.Gly428=
ENST00000379915.4:c.413-248C>G	ENSP00000478716.1:n.413-248C>G
ENST00000563762.5:c.826-248C>G	ENSP00000456346.1:n.826-248C>G
ENST00000566304.5:c.1317C>G	ENSP00000455114.1:p.Gly439=
ENST00000566672.5:c.*694C>G	ENSP00000457037.1:n.*694C>G
ENST00000567027.5:c.946-248C>G
ENST00000567159.5:c.1284C>G	ENSP00000456489.1:p.Gly428=
ENST00000567411.5:c.*805C>G	ENSP00000455545.1:n.*805C>G
ENST00000568777.5:n.6551-248C>G
ENST00000569410.5:c.*89C>G	ENSP00000457125.1:n.*89C>G
NM_000520.4:c.1284C>G	NP_000511.2:p.Gly428=
NM_000520.5:c.1284C>G	NP_000511.2:p.Gly428=
NM_001318825.1:c.1317C>G	NP_001305754.1:p.Gly439=
NR_134869.1:n.1575-248C>G
NM_000520.6:c.1284C>G MANE Select	NP_000511.2:p.Gly428=
NM_001318825.2:c.1317C>G	NP_001305754.1:p.Gly439=
NR_134869.2:n.1116-248C>G
NR_134869.3:n.1116-248C>G