Canonical Allele Identifier: CA393058747

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637848A>T (hg19) ; chr15:g.72345507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345507A>T , CM000677.2:g.72345507A>T	GRCh38
NC_000015.9:g.72637848A>T , CM000677.1:g.72637848A>T	GRCh37
NC_000015.8:g.70424902A>T	NCBI36
NG_009017.1:g.35673T>A
NG_009017.2:g.35673T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*125T>A	ENSP00000457521.2:n.*125T>A
ENST00000682061.1:c.*1811T>A	ENSP00000508316.1:n.*1811T>A
ENST00000682064.1:n.1692T>A
ENST00000682177.1:c.1508T>A	ENSP00000507409.1:n.1508T>A
ENST00000682235.1:n.1488T>A
ENST00000682461.1:c.1571T>A	ENSP00000507308.1:n.1571T>A
ENST00000682653.1:n.2469T>A
ENST00000682657.1:c.*1302T>A	ENSP00000507753.1:n.*1302T>A
ENST00000682721.1:c.*1268T>A	ENSP00000507535.1:n.*1268T>A
ENST00000682843.1:c.*1106T>A	ENSP00000508173.1:n.*1106T>A
ENST00000683003.1:c.*1302T>A	ENSP00000507576.1:n.*1302T>A
ENST00000683133.1:c.1649T>A	ENSP00000508108.1:n.1649T>A
ENST00000683243.1:c.*618T>A	ENSP00000507042.1:n.*618T>A
ENST00000683463.1:c.*954T>A	ENSP00000507986.1:n.*954T>A
ENST00000683548.1:n.1923T>A
ENST00000683579.1:c.*1363T>A	ENSP00000506867.1:n.*1363T>A
ENST00000683587.1:n.1996T>A
ENST00000683681.1:c.*143T>A	ENSP00000508110.1:n.*143T>A
ENST00000683735.1:c.*1863T>A	ENSP00000508336.1:n.*1863T>A
ENST00000683853.1:c.*270T>A	ENSP00000506834.1:n.*270T>A
ENST00000683860.1:c.*585T>A	ENSP00000507179.1:n.*585T>A
ENST00000683884.1:c.*792T>A	ENSP00000507004.1:n.*792T>A
ENST00000684041.1:c.*598T>A	ENSP00000508382.1:n.*598T>A
ENST00000684125.1:c.*125T>A	ENSP00000507320.1:n.*125T>A
ENST00000684203.1:n.3914T>A
ENST00000684231.1:c.*875T>A	ENSP00000507748.1:n.*875T>A
ENST00000684263.1:c.*1089T>A	ENSP00000508369.1:n.*1089T>A
ENST00000684305.1:c.1913T>A	ENSP00000506819.1:n.1913T>A
ENST00000684415.1:c.*1016T>A	ENSP00000507227.1:n.*1016T>A
ENST00000684520.1:c.*724T>A	ENSP00000506826.1:n.*724T>A
ENST00000684602.1:c.*1131T>A	ENSP00000507996.1:n.*1131T>A
ENST00000684667.1:c.1796T>A	ENSP00000507003.1:n.1796T>A
ENST00000268097.10:c.1465T>A MANE Select	ENSP00000268097.6:p.Leu489Met
ENST00000268097.9:c.1465T>A	ENSP00000268097.5:p.Leu489Met
ENST00000379915.4:c.547T>A	ENSP00000478716.1:p.Leu183Met
ENST00000564677.5:n.257T>A
ENST00000565873.1:n.376T>A
ENST00000566304.5:c.1498T>A	ENSP00000455114.1:p.Leu500Met
ENST00000567027.5:c.1080T>A
ENST00000567159.5:c.1465T>A	ENSP00000456489.1:p.Leu489Met
ENST00000567411.5:c.*986T>A	ENSP00000455545.1:n.*986T>A
ENST00000568777.5:n.6685T>A
ENST00000569116.1:n.172T>A
NM_000520.4:c.1465T>A	NP_000511.2:p.Leu489Met
NM_000520.5:c.1465T>A	NP_000511.2:p.Leu489Met
NM_001318825.1:c.1498T>A	NP_001305754.1:p.Leu500Met
NR_134869.1:n.1709T>A
NM_000520.6:c.1465T>A MANE Select	NP_000511.2:p.Leu489Met
NM_001318825.2:c.1498T>A	NP_001305754.1:p.Leu500Met
NR_134869.2:n.1250T>A
NR_134869.3:n.1250T>A