Canonical Allele Identifier: CA116501

Gene: HEXA

Linked Data

• ClinVar Variation Id: 3899
• ClinVar RCV Id: RCV000004105 ; RCV000210735 ; RCV000338961 ; RCV000520531
• dbSNP Id: rs121907956
• ExAC: 15:72637817 C / T
• gnomAD v2: 15-72637817-C-T
• gnomAD v3: 15-72345476-C-T
• gnomAD v4: 15-72345476-C-T
• MyVariant Identifiers: chr15:g.72637817C>T (hg19) ; chr15:g.72345476C>T (hg38)
• PubMed: PMID:2140574 ; PMID:3754980 ; PMID:8230592 ; PMID:9073025 ; PMID:12108829 ; PMID:14566483 ; PMID:15714079 ; PMID:16088929 ; PMID:16199656 ; PMID:17412732 ; PMID:19330222 ; PMID:19858779 ; PMID:22025593 ; PMID:23891399

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*156G>A	ENSP00000457521.2:n.*156G>A
ENST00000682061.1:c.*1842G>A	ENSP00000508316.1:n.*1842G>A
ENST00000682064.1:n.1723G>A
ENST00000682177.1:c.1539G>A	ENSP00000507409.1:n.1539G>A
ENST00000682235.1:n.1519G>A
ENST00000682461.1:c.1602G>A	ENSP00000507308.1:n.1602G>A
ENST00000682653.1:n.2500G>A
ENST00000682657.1:c.*1333G>A	ENSP00000507753.1:n.*1333G>A
ENST00000682721.1:c.*1299G>A	ENSP00000507535.1:n.*1299G>A
ENST00000682843.1:c.*1137G>A	ENSP00000508173.1:n.*1137G>A
ENST00000683003.1:c.*1333G>A	ENSP00000507576.1:n.*1333G>A
ENST00000683133.1:c.1680G>A	ENSP00000508108.1:n.1680G>A
ENST00000683243.1:c.*649G>A	ENSP00000507042.1:n.*649G>A
ENST00000683463.1:c.*985G>A	ENSP00000507986.1:n.*985G>A
ENST00000683548.1:n.1954G>A
ENST00000683579.1:c.*1394G>A	ENSP00000506867.1:n.*1394G>A
ENST00000683587.1:n.2027G>A
ENST00000683681.1:c.*174G>A	ENSP00000508110.1:n.*174G>A
ENST00000683735.1:c.*1894G>A	ENSP00000508336.1:n.*1894G>A
ENST00000683853.1:c.*301G>A	ENSP00000506834.1:n.*301G>A
ENST00000683860.1:c.*616G>A	ENSP00000507179.1:n.*616G>A
ENST00000683884.1:c.*823G>A	ENSP00000507004.1:n.*823G>A
ENST00000684041.1:c.*629G>A	ENSP00000508382.1:n.*629G>A
ENST00000684125.1:c.*156G>A	ENSP00000507320.1:n.*156G>A
ENST00000684203.1:n.3945G>A
ENST00000684231.1:c.*906G>A	ENSP00000507748.1:n.*906G>A
ENST00000684263.1:c.*1120G>A	ENSP00000508369.1:n.*1120G>A
ENST00000684305.1:c.1944G>A	ENSP00000506819.1:n.1944G>A
ENST00000684415.1:c.*1047G>A	ENSP00000507227.1:n.*1047G>A
ENST00000684520.1:c.*755G>A	ENSP00000506826.1:n.*755G>A
ENST00000684602.1:c.*1162G>A	ENSP00000507996.1:n.*1162G>A
ENST00000684667.1:c.1827G>A	ENSP00000507003.1:n.1827G>A
ENST00000268097.10:c.1496G>A MANE Select	ENSP00000268097.6:p.Arg499His
ENST00000268097.9:c.1496G>A	ENSP00000268097.5:p.Arg499His
ENST00000379915.4:c.578G>A	ENSP00000478716.1:p.Arg193His
ENST00000564677.5:n.288G>A
ENST00000565873.1:n.407G>A
ENST00000566304.5:c.1529G>A	ENSP00000455114.1:p.Arg510His
ENST00000567027.5:c.1111G>A
ENST00000567159.5:c.1496G>A	ENSP00000456489.1:p.Arg499His
ENST00000567411.5:c.*1017G>A	ENSP00000455545.1:n.*1017G>A
ENST00000568777.5:n.6716G>A
ENST00000569116.1:n.203G>A
NM_000520.4:c.1496G>A	NP_000511.2:p.Arg499His
NM_000520.5:c.1496G>A	NP_000511.2:p.Arg499His
NM_001318825.1:c.1529G>A	NP_001305754.1:p.Arg510His
NR_134869.1:n.1740G>A
NM_000520.6:c.1496G>A MANE Select	NP_000511.2:p.Arg499His
NM_001318825.2:c.1529G>A	NP_001305754.1:p.Arg510His
NR_134869.2:n.1281G>A
NR_134869.3:n.1281G>A