Canonical Allele Identifier: CA491117297
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1972883
ClinVar RCV Id: RCV002750415
MyVariant Identifiers: chr15:g.72638956G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346615G>A , CM000677.2:g.72346615G>A GRCh38
NC_000015.9:g.72638956G>A , CM000677.1:g.72638956G>A GRCh37
NC_000015.8:g.70426010G>A NCBI36
NG_009017.1:g.34565C>T
NG_009017.2:g.34565C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.1074-290C>T ENSP00000457521.2:n.1074-290C>T
ENST00000682061.1:c.*904C>T ENSP00000508316.1:n.*904C>T
ENST00000682064.1:n.584C>T
ENST00000682177.1:c.1285C>T ENSP00000507409.1:n.1285C>T
ENST00000682235.1:n.581C>T
ENST00000682461.1:c.1348C>T ENSP00000507308.1:n.1348C>T
ENST00000682653.1:n.1562C>T
ENST00000682657.1:c.*484-290C>T ENSP00000507753.1:n.*484-290C>T
ENST00000682721.1:c.*1045C>T ENSP00000507535.1:n.*1045C>T
ENST00000682843.1:c.*972-290C>T ENSP00000508173.1:n.*972-290C>T
ENST00000683003.1:c.*484-290C>T ENSP00000507576.1:n.*484-290C>T
ENST00000683133.1:c.1426C>T ENSP00000508108.1:n.1426C>T
ENST00000683243.1:c.*484-290C>T ENSP00000507042.1:n.*484-290C>T
ENST00000683463.1:c.*47C>T ENSP00000507986.1:n.*47C>T
ENST00000683548.1:n.1105-290C>T
ENST00000683579.1:c.*1140C>T ENSP00000506867.1:n.*1140C>T
ENST00000683587.1:n.1178-290C>T
ENST00000683681.1:c.1242C>T ENSP00000508110.1:p.Ala414=
ENST00000683735.1:c.*1045-290C>T ENSP00000508336.1:n.*1045-290C>T
ENST00000683853.1:c.*47C>T ENSP00000506834.1:n.*47C>T
ENST00000683860.1:c.1242C>T ENSP00000507179.1:p.Ala414=
ENST00000683884.1:c.1147-290C>T ENSP00000507004.1:n.1147-290C>T
ENST00000684041.1:c.1242C>T ENSP00000508382.1:p.Ala414=
ENST00000684125.1:c.1074-290C>T ENSP00000507320.1:n.1074-290C>T
ENST00000684203.1:n.3007C>T
ENST00000684231.1:c.*652C>T ENSP00000507748.1:n.*652C>T
ENST00000684263.1:c.*182C>T ENSP00000508369.1:n.*182C>T
ENST00000684305.1:c.1690C>T ENSP00000506819.1:n.1690C>T
ENST00000684415.1:c.*109C>T ENSP00000507227.1:n.*109C>T
ENST00000684520.1:c.1242C>T ENSP00000506826.1:p.Ala414=
ENST00000684602.1:c.*908C>T ENSP00000507996.1:n.*908C>T
ENST00000684667.1:c.1573C>T ENSP00000507003.1:n.1573C>T
ENST00000268097.10:c.1242C>T MANE Select ENSP00000268097.6:p.Ala414=
ENST00000268097.9:c.1242C>T ENSP00000268097.5:p.Ala414=
ENST00000379915.4:c.413-290C>T ENSP00000478716.1:n.413-290C>T
ENST00000563762.5:c.826-290C>T ENSP00000456346.1:n.826-290C>T
ENST00000566304.5:c.1275C>T ENSP00000455114.1:p.Ala425=
ENST00000566672.5:c.*652C>T ENSP00000457037.1:n.*652C>T
ENST00000567027.5:c.946-290C>T
ENST00000567159.5:c.1242C>T ENSP00000456489.1:p.Ala414=
ENST00000567411.5:c.*763C>T ENSP00000455545.1:n.*763C>T
ENST00000568777.5:n.6551-290C>T
ENST00000569410.5:c.*47C>T ENSP00000457125.1:n.*47C>T
NM_000520.4:c.1242C>T NP_000511.2:p.Ala414=
NM_000520.5:c.1242C>T NP_000511.2:p.Ala414=
NM_001318825.1:c.1275C>T NP_001305754.1:p.Ala425=
NR_134869.1:n.1575-290C>T
NM_000520.6:c.1242C>T MANE Select NP_000511.2:p.Ala414=
NM_001318825.2:c.1275C>T NP_001305754.1:p.Ala425=
NR_134869.2:n.1116-290C>T
NR_134869.3:n.1116-290C>T