Canonical Allele Identifier: CA7644649
Community Standard Title: NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72344138C>T , CM000677.2:g.72344138C>T GRCh38
NC_000015.9:g.72636479C>T , CM000677.1:g.72636479C>T GRCh37
NC_000015.8:g.70423533C>T NCBI36
NG_009017.1:g.37042G>A
NG_009017.2:g.37042G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000520.6:c.1529G>A MANE Select NP_000511.2:p.Arg510Gln
ENST00000268097.10:c.1529G>A MANE Select ENSP00000268097.6:p.Arg510Gln
NM_000520.4:c.1529G>A NP_000511.2:p.Arg510Gln
NM_000520.5:c.1529G>A NP_000511.2:p.Arg510Gln
NM_001318825.1:c.1562G>A NP_001305754.1:p.Arg521Gln
NM_001318825.2:c.1562G>A NP_001305754.1:p.Arg521Gln
ENST00000268097.9:c.1529G>A ENSP00000268097.5:p.Arg510Gln
ENST00000379915.4:c.608+1308G>A ENSP00000478716.1:n.608+1308G>A
ENST00000564677.5:n.321G>A
ENST00000565873.1:n.440G>A
ENST00000566304.5:c.1562G>A ENSP00000455114.1:p.Arg521Gln
ENST00000567411.5:c.*1050G>A ENSP00000455545.1:n.*1050G>A
ENST00000682064.1:n.1756G>A
ENST00000682235.1:n.1552G>A
ENST00000682461.1:c.1635G>A ENSP00000507308.1:n.1635G>A
ENST00000682653.1:n.3838G>A
ENST00000682721.1:c.*1332G>A ENSP00000507535.1:n.*1332G>A
ENST00000682843.1:c.*1170G>A ENSP00000508173.1:n.*1170G>A
ENST00000683133.1:c.1713G>A ENSP00000508108.1:n.1713G>A
ENST00000683243.1:c.*682G>A ENSP00000507042.1:n.*682G>A
ENST00000683463.1:c.*1018G>A ENSP00000507986.1:n.*1018G>A
ENST00000683548.1:n.1987G>A
ENST00000683579.1:c.*1427G>A ENSP00000506867.1:n.*1427G>A
ENST00000683587.1:n.2060G>A
ENST00000683681.1:c.*207G>A ENSP00000508110.1:n.*207G>A
ENST00000683735.1:c.*1927G>A ENSP00000508336.1:n.*1927G>A
ENST00000683853.1:c.*1639G>A ENSP00000506834.1:n.*1639G>A
ENST00000683860.1:c.*649G>A ENSP00000507179.1:n.*649G>A
ENST00000684125.1:c.*189G>A ENSP00000507320.1:n.*189G>A
ENST00000684203.1:n.3978G>A
ENST00000684231.1:c.*939G>A ENSP00000507748.1:n.*939G>A
ENST00000684263.1:c.*1153G>A ENSP00000508369.1:n.*1153G>A
ENST00000684305.1:c.1977G>A ENSP00000506819.1:n.1977G>A
ENST00000684602.1:c.*1195G>A ENSP00000507996.1:n.*1195G>A
ENST00000684667.1:c.1860G>A ENSP00000507003.1:n.1860G>A