Canonical Allele Identifier: CA393059380

Gene: HEXA

Linked Data

• COSMIC: COSM3816695
• MyVariant Identifiers: chr15:g.72638658C>G (hg19) ; chr15:g.72346317C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346317C>G , CM000677.2:g.72346317C>G	GRCh38
NC_000015.9:g.72638658C>G , CM000677.1:g.72638658C>G	GRCh37
NC_000015.8:g.70425712C>G	NCBI36
NG_009017.1:g.34863G>C
NG_009017.2:g.34863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1082G>C	ENSP00000457521.2:p.Ter361Ser
ENST00000682061.1:c.*1001G>C	ENSP00000508316.1:n.*1001G>C
ENST00000682064.1:n.882G>C
ENST00000682177.1:c.1382G>C	ENSP00000507409.1:n.1382G>C
ENST00000682235.1:n.678G>C
ENST00000682461.1:c.1445G>C	ENSP00000507308.1:n.1445G>C
ENST00000682653.1:n.1659G>C
ENST00000682657.1:c.*492G>C	ENSP00000507753.1:n.*492G>C
ENST00000682721.1:c.*1142G>C	ENSP00000507535.1:n.*1142G>C
ENST00000682843.1:c.*980G>C	ENSP00000508173.1:n.*980G>C
ENST00000683003.1:c.*492G>C	ENSP00000507576.1:n.*492G>C
ENST00000683133.1:c.1523G>C	ENSP00000508108.1:n.1523G>C
ENST00000683243.1:c.*492G>C	ENSP00000507042.1:n.*492G>C
ENST00000683463.1:c.*144G>C	ENSP00000507986.1:n.*144G>C
ENST00000683548.1:n.1113G>C
ENST00000683579.1:c.*1237G>C	ENSP00000506867.1:n.*1237G>C
ENST00000683587.1:n.1186G>C
ENST00000683681.1:c.1339G>C	ENSP00000508110.1:p.Glu447Gln
ENST00000683735.1:c.*1053G>C	ENSP00000508336.1:n.*1053G>C
ENST00000683853.1:c.*144G>C	ENSP00000506834.1:n.*144G>C
ENST00000683860.1:c.1339G>C	ENSP00000507179.1:p.Glu447Gln
ENST00000683884.1:c.1155G>C	ENSP00000507004.1:p.Leu385=
ENST00000684041.1:c.1339G>C	ENSP00000508382.1:p.Glu447Gln
ENST00000684125.1:c.1082G>C	ENSP00000507320.1:p.Ter361Ser
ENST00000684203.1:n.3104G>C
ENST00000684231.1:c.*749G>C	ENSP00000507748.1:n.*749G>C
ENST00000684263.1:c.*279G>C	ENSP00000508369.1:n.*279G>C
ENST00000684305.1:c.1787G>C	ENSP00000506819.1:n.1787G>C
ENST00000684415.1:c.*206G>C	ENSP00000507227.1:n.*206G>C
ENST00000684520.1:c.1339G>C	ENSP00000506826.1:p.Glu447Gln
ENST00000684602.1:c.*1005G>C	ENSP00000507996.1:n.*1005G>C
ENST00000684667.1:c.1670G>C	ENSP00000507003.1:n.1670G>C
ENST00000268097.10:c.1339G>C MANE Select	ENSP00000268097.6:p.Glu447Gln
ENST00000268097.9:c.1339G>C	ENSP00000268097.5:p.Glu447Gln
ENST00000379915.4:c.421G>C	ENSP00000478716.1:p.Glu141Gln
ENST00000563762.5:c.834G>C	ENSP00000456346.1:n.834G>C
ENST00000566304.5:c.1372G>C	ENSP00000455114.1:p.Glu458Gln
ENST00000566672.5:c.*749G>C	ENSP00000457037.1:n.*749G>C
ENST00000567027.5:c.954G>C
ENST00000567159.5:c.1339G>C	ENSP00000456489.1:p.Glu447Gln
ENST00000567411.5:c.*860G>C	ENSP00000455545.1:n.*860G>C
ENST00000568777.5:n.6559G>C
ENST00000569410.5:c.*144G>C	ENSP00000457125.1:n.*144G>C
NM_000520.4:c.1339G>C	NP_000511.2:p.Glu447Gln
NM_000520.5:c.1339G>C	NP_000511.2:p.Glu447Gln
NM_001318825.1:c.1372G>C	NP_001305754.1:p.Glu458Gln
NR_134869.1:n.1583G>C
NM_000520.6:c.1339G>C MANE Select	NP_000511.2:p.Glu447Gln
NM_001318825.2:c.1372G>C	NP_001305754.1:p.Glu458Gln
NR_134869.2:n.1124G>C
NR_134869.3:n.1124G>C