Canonical Allele Identifier: CA393058771

Gene: HEXA

Linked Data

• dbSNP Id: rs2088600580
• gnomAD v3: 15-72345512-T-C
• gnomAD v4: 15-72345512-T-C
• MyVariant Identifiers: chr15:g.72637853T>C (hg19) ; chr15:g.72345512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345512T>C , CM000677.2:g.72345512T>C	GRCh38
NC_000015.9:g.72637853T>C , CM000677.1:g.72637853T>C	GRCh37
NC_000015.8:g.70424907T>C	NCBI36
NG_009017.1:g.35668A>G
NG_009017.2:g.35668A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*120A>G	ENSP00000457521.2:n.*120A>G
ENST00000682061.1:c.*1806A>G	ENSP00000508316.1:n.*1806A>G
ENST00000682064.1:n.1687A>G
ENST00000682177.1:c.1503A>G	ENSP00000507409.1:n.1503A>G
ENST00000682235.1:n.1483A>G
ENST00000682461.1:c.1566A>G	ENSP00000507308.1:n.1566A>G
ENST00000682653.1:n.2464A>G
ENST00000682657.1:c.*1297A>G	ENSP00000507753.1:n.*1297A>G
ENST00000682721.1:c.*1263A>G	ENSP00000507535.1:n.*1263A>G
ENST00000682843.1:c.*1101A>G	ENSP00000508173.1:n.*1101A>G
ENST00000683003.1:c.*1297A>G	ENSP00000507576.1:n.*1297A>G
ENST00000683133.1:c.1644A>G	ENSP00000508108.1:n.1644A>G
ENST00000683243.1:c.*613A>G	ENSP00000507042.1:n.*613A>G
ENST00000683463.1:c.*949A>G	ENSP00000507986.1:n.*949A>G
ENST00000683548.1:n.1918A>G
ENST00000683579.1:c.*1358A>G	ENSP00000506867.1:n.*1358A>G
ENST00000683587.1:n.1991A>G
ENST00000683681.1:c.*138A>G	ENSP00000508110.1:n.*138A>G
ENST00000683735.1:c.*1858A>G	ENSP00000508336.1:n.*1858A>G
ENST00000683853.1:c.*265A>G	ENSP00000506834.1:n.*265A>G
ENST00000683860.1:c.*580A>G	ENSP00000507179.1:n.*580A>G
ENST00000683884.1:c.*787A>G	ENSP00000507004.1:n.*787A>G
ENST00000684041.1:c.*593A>G	ENSP00000508382.1:n.*593A>G
ENST00000684125.1:c.*120A>G	ENSP00000507320.1:n.*120A>G
ENST00000684203.1:n.3909A>G
ENST00000684231.1:c.*870A>G	ENSP00000507748.1:n.*870A>G
ENST00000684263.1:c.*1084A>G	ENSP00000508369.1:n.*1084A>G
ENST00000684305.1:c.1908A>G	ENSP00000506819.1:n.1908A>G
ENST00000684415.1:c.*1011A>G	ENSP00000507227.1:n.*1011A>G
ENST00000684520.1:c.*719A>G	ENSP00000506826.1:n.*719A>G
ENST00000684602.1:c.*1126A>G	ENSP00000507996.1:n.*1126A>G
ENST00000684667.1:c.1791A>G	ENSP00000507003.1:n.1791A>G
ENST00000268097.10:c.1460A>G MANE Select	ENSP00000268097.6:p.Asn487Ser
ENST00000268097.9:c.1460A>G	ENSP00000268097.5:p.Asn487Ser
ENST00000379915.4:c.542A>G	ENSP00000478716.1:p.Asn181Ser
ENST00000564677.5:n.252A>G
ENST00000565873.1:n.371A>G
ENST00000566304.5:c.1493A>G	ENSP00000455114.1:p.Asn498Ser
ENST00000567027.5:c.1075A>G
ENST00000567159.5:c.1460A>G	ENSP00000456489.1:p.Asn487Ser
ENST00000567411.5:c.*981A>G	ENSP00000455545.1:n.*981A>G
ENST00000568777.5:n.6680A>G
ENST00000569116.1:n.167A>G
NM_000520.4:c.1460A>G	NP_000511.2:p.Asn487Ser
NM_000520.5:c.1460A>G	NP_000511.2:p.Asn487Ser
NM_001318825.1:c.1493A>G	NP_001305754.1:p.Asn498Ser
NR_134869.1:n.1704A>G
NM_000520.6:c.1460A>G MANE Select	NP_000511.2:p.Asn487Ser
NM_001318825.2:c.1493A>G	NP_001305754.1:p.Asn498Ser
NR_134869.2:n.1245A>G
NR_134869.3:n.1245A>G