Canonical Allele Identifier: CA393058592

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345476-C-A
• MyVariant Identifiers: chr15:g.72637817C>A (hg19) ; chr15:g.72345476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345476C>A , CM000677.2:g.72345476C>A	GRCh38
NC_000015.9:g.72637817C>A , CM000677.1:g.72637817C>A	GRCh37
NC_000015.8:g.70424871C>A	NCBI36
NG_009017.1:g.35704G>T
NG_009017.2:g.35704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*156G>T	ENSP00000457521.2:n.*156G>T
ENST00000682061.1:c.*1842G>T	ENSP00000508316.1:n.*1842G>T
ENST00000682064.1:n.1723G>T
ENST00000682177.1:c.1539G>T	ENSP00000507409.1:n.1539G>T
ENST00000682235.1:n.1519G>T
ENST00000682461.1:c.1602G>T	ENSP00000507308.1:n.1602G>T
ENST00000682653.1:n.2500G>T
ENST00000682657.1:c.*1333G>T	ENSP00000507753.1:n.*1333G>T
ENST00000682721.1:c.*1299G>T	ENSP00000507535.1:n.*1299G>T
ENST00000682843.1:c.*1137G>T	ENSP00000508173.1:n.*1137G>T
ENST00000683003.1:c.*1333G>T	ENSP00000507576.1:n.*1333G>T
ENST00000683133.1:c.1680G>T	ENSP00000508108.1:n.1680G>T
ENST00000683243.1:c.*649G>T	ENSP00000507042.1:n.*649G>T
ENST00000683463.1:c.*985G>T	ENSP00000507986.1:n.*985G>T
ENST00000683548.1:n.1954G>T
ENST00000683579.1:c.*1394G>T	ENSP00000506867.1:n.*1394G>T
ENST00000683587.1:n.2027G>T
ENST00000683681.1:c.*174G>T	ENSP00000508110.1:n.*174G>T
ENST00000683735.1:c.*1894G>T	ENSP00000508336.1:n.*1894G>T
ENST00000683853.1:c.*301G>T	ENSP00000506834.1:n.*301G>T
ENST00000683860.1:c.*616G>T	ENSP00000507179.1:n.*616G>T
ENST00000683884.1:c.*823G>T	ENSP00000507004.1:n.*823G>T
ENST00000684041.1:c.*629G>T	ENSP00000508382.1:n.*629G>T
ENST00000684125.1:c.*156G>T	ENSP00000507320.1:n.*156G>T
ENST00000684203.1:n.3945G>T
ENST00000684231.1:c.*906G>T	ENSP00000507748.1:n.*906G>T
ENST00000684263.1:c.*1120G>T	ENSP00000508369.1:n.*1120G>T
ENST00000684305.1:c.1944G>T	ENSP00000506819.1:n.1944G>T
ENST00000684415.1:c.*1047G>T	ENSP00000507227.1:n.*1047G>T
ENST00000684520.1:c.*755G>T	ENSP00000506826.1:n.*755G>T
ENST00000684602.1:c.*1162G>T	ENSP00000507996.1:n.*1162G>T
ENST00000684667.1:c.1827G>T	ENSP00000507003.1:n.1827G>T
ENST00000268097.10:c.1496G>T MANE Select	ENSP00000268097.6:p.Arg499Leu
ENST00000268097.9:c.1496G>T	ENSP00000268097.5:p.Arg499Leu
ENST00000379915.4:c.578G>T	ENSP00000478716.1:p.Arg193Leu
ENST00000564677.5:n.288G>T
ENST00000565873.1:n.407G>T
ENST00000566304.5:c.1529G>T	ENSP00000455114.1:p.Arg510Leu
ENST00000567027.5:c.1111G>T
ENST00000567159.5:c.1496G>T	ENSP00000456489.1:p.Arg499Leu
ENST00000567411.5:c.*1017G>T	ENSP00000455545.1:n.*1017G>T
ENST00000568777.5:n.6716G>T
ENST00000569116.1:n.203G>T
NM_000520.4:c.1496G>T	NP_000511.2:p.Arg499Leu
NM_000520.5:c.1496G>T	NP_000511.2:p.Arg499Leu
NM_001318825.1:c.1529G>T	NP_001305754.1:p.Arg510Leu
NR_134869.1:n.1740G>T
NM_000520.6:c.1496G>T MANE Select	NP_000511.2:p.Arg499Leu
NM_001318825.2:c.1529G>T	NP_001305754.1:p.Arg510Leu
NR_134869.2:n.1281G>T
NR_134869.3:n.1281G>T