Canonical Allele Identifier: CA2186743291
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345533A= , CM000677.2:g.72345533A= GRCh38
NC_000015.9:g.72637874A= , CM000677.1:g.72637874A= GRCh37
NC_000015.8:g.70424928A= NCBI36
NG_009017.1:g.35647T=
NG_009017.2:g.35647T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*99T= ENSP00000457521.2:n.*99T=
ENST00000682061.1:c.*1785T= ENSP00000508316.1:n.*1785T=
ENST00000682064.1:n.1666T=
ENST00000682177.1:c.1482T= ENSP00000507409.1:n.1482T=
ENST00000682235.1:n.1462T=
ENST00000682461.1:c.1545T= ENSP00000507308.1:n.1545T=
ENST00000682653.1:n.2443T=
ENST00000682657.1:c.*1276T= ENSP00000507753.1:n.*1276T=
ENST00000682721.1:c.*1242T= ENSP00000507535.1:n.*1242T=
ENST00000682843.1:c.*1080T= ENSP00000508173.1:n.*1080T=
ENST00000683003.1:c.*1276T= ENSP00000507576.1:n.*1276T=
ENST00000683133.1:c.1623T= ENSP00000508108.1:n.1623T=
ENST00000683243.1:c.*592T= ENSP00000507042.1:n.*592T=
ENST00000683463.1:c.*928T= ENSP00000507986.1:n.*928T=
ENST00000683548.1:n.1897T=
ENST00000683579.1:c.*1337T= ENSP00000506867.1:n.*1337T=
ENST00000683587.1:n.1970T=
ENST00000683681.1:c.*117T= ENSP00000508110.1:n.*117T=
ENST00000683735.1:c.*1837T= ENSP00000508336.1:n.*1837T=
ENST00000683853.1:c.*244T= ENSP00000506834.1:n.*244T=
ENST00000683860.1:c.*559T= ENSP00000507179.1:n.*559T=
ENST00000683884.1:c.*766T= ENSP00000507004.1:n.*766T=
ENST00000684041.1:c.*572T= ENSP00000508382.1:n.*572T=
ENST00000684125.1:c.*99T= ENSP00000507320.1:n.*99T=
ENST00000684203.1:n.3888T=
ENST00000684231.1:c.*849T= ENSP00000507748.1:n.*849T=
ENST00000684263.1:c.*1063T= ENSP00000508369.1:n.*1063T=
ENST00000684305.1:c.1887T= ENSP00000506819.1:n.1887T=
ENST00000684415.1:c.*990T= ENSP00000507227.1:n.*990T=
ENST00000684520.1:c.*698T= ENSP00000506826.1:n.*698T=
ENST00000684602.1:c.*1105T= ENSP00000507996.1:n.*1105T=
ENST00000684667.1:c.1770T= ENSP00000507003.1:n.1770T=
ENST00000268097.10:c.1439T= MANE Select ENSP00000268097.6:p.Val480=
ENST00000268097.9:c.1439T= ENSP00000268097.5:p.Val480=
ENST00000379915.4:c.521T= ENSP00000478716.1:p.Val174=
ENST00000564677.5:n.231T=
ENST00000565873.1:n.350T=
ENST00000566304.5:c.1472T= ENSP00000455114.1:p.Val491=
ENST00000567027.5:c.1054T=
ENST00000567159.5:c.1439T= ENSP00000456489.1:p.Val480=
ENST00000567411.5:c.*960T= ENSP00000455545.1:n.*960T=
ENST00000568777.5:n.6659T=
ENST00000569116.1:n.146T=
NM_000520.4:c.1439T= NP_000511.2:p.Val480=
NM_000520.5:c.1439T= NP_000511.2:p.Val480=
NM_001318825.1:c.1472T= NP_001305754.1:p.Val491=
NR_134869.1:n.1683T=
NM_000520.6:c.1439T= MANE Select NP_000511.2:p.Val480=
NM_001318825.2:c.1472T= NP_001305754.1:p.Val491=
NR_134869.2:n.1224T=
NR_134869.3:n.1224T=