Canonical Allele Identifier: CA393061462

Gene: HEXA

Linked Data

• dbSNP Id: rs2140320849
• MyVariant Identifiers: chr15:g.72639045G>C (hg19) ; chr15:g.72346704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346704G>C , CM000677.2:g.72346704G>C	GRCh38
NC_000015.9:g.72639045G>C , CM000677.1:g.72639045G>C	GRCh37
NC_000015.8:g.70426099G>C	NCBI36
NG_009017.1:g.34476C>G
NG_009017.2:g.34476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-379C>G	ENSP00000457521.2:n.1074-379C>G
ENST00000682061.1:c.*815C>G	ENSP00000508316.1:n.*815C>G
ENST00000682064.1:n.495C>G
ENST00000682177.1:c.1196C>G	ENSP00000507409.1:n.1196C>G
ENST00000682235.1:n.492C>G
ENST00000682461.1:c.1259C>G	ENSP00000507308.1:n.1259C>G
ENST00000682653.1:n.1473C>G
ENST00000682657.1:c.*484-379C>G	ENSP00000507753.1:n.*484-379C>G
ENST00000682721.1:c.*956C>G	ENSP00000507535.1:n.*956C>G
ENST00000682843.1:c.*972-379C>G	ENSP00000508173.1:n.*972-379C>G
ENST00000683003.1:c.*484-379C>G	ENSP00000507576.1:n.*484-379C>G
ENST00000683133.1:c.1337C>G	ENSP00000508108.1:n.1337C>G
ENST00000683243.1:c.*484-379C>G	ENSP00000507042.1:n.*484-379C>G
ENST00000683463.1:c.1080C>G	ENSP00000507986.1:p.Ser360Arg
ENST00000683548.1:n.1105-379C>G
ENST00000683579.1:c.*1051C>G	ENSP00000506867.1:n.*1051C>G
ENST00000683587.1:n.1178-379C>G
ENST00000683681.1:c.1153C>G	ENSP00000508110.1:p.Pro385Ala
ENST00000683735.1:c.*1045-379C>G	ENSP00000508336.1:n.*1045-379C>G
ENST00000683853.1:c.1080C>G	ENSP00000506834.1:p.Ser360Arg
ENST00000683860.1:c.1153C>G	ENSP00000507179.1:p.Pro385Ala
ENST00000683884.1:c.1147-379C>G	ENSP00000507004.1:n.1147-379C>G
ENST00000684041.1:c.1153C>G	ENSP00000508382.1:p.Pro385Ala
ENST00000684125.1:c.1074-379C>G	ENSP00000507320.1:n.1074-379C>G
ENST00000684203.1:n.2918C>G
ENST00000684231.1:c.*563C>G	ENSP00000507748.1:n.*563C>G
ENST00000684263.1:c.*93C>G	ENSP00000508369.1:n.*93C>G
ENST00000684305.1:c.1601C>G	ENSP00000506819.1:n.1601C>G
ENST00000684415.1:c.*20C>G	ENSP00000507227.1:n.*20C>G
ENST00000684520.1:c.1153C>G	ENSP00000506826.1:p.Pro385Ala
ENST00000684602.1:c.*819C>G	ENSP00000507996.1:n.*819C>G
ENST00000684667.1:c.1484C>G	ENSP00000507003.1:n.1484C>G
ENST00000268097.10:c.1153C>G MANE Select	ENSP00000268097.6:p.Pro385Ala
ENST00000268097.9:c.1153C>G	ENSP00000268097.5:p.Pro385Ala
ENST00000379915.4:c.413-379C>G	ENSP00000478716.1:n.413-379C>G
ENST00000563762.5:c.826-379C>G	ENSP00000456346.1:n.826-379C>G
ENST00000566304.5:c.1186C>G	ENSP00000455114.1:p.Pro396Ala
ENST00000566672.5:c.*563C>G	ENSP00000457037.1:n.*563C>G
ENST00000567027.5:c.946-379C>G
ENST00000567159.5:c.1153C>G	ENSP00000456489.1:p.Pro385Ala
ENST00000567411.5:c.*674C>G	ENSP00000455545.1:n.*674C>G
ENST00000568777.5:n.6551-379C>G
ENST00000569410.5:c.1080C>G	ENSP00000457125.1:p.Ser360Arg
NM_000520.4:c.1153C>G	NP_000511.2:p.Pro385Ala
NM_000520.5:c.1153C>G	NP_000511.2:p.Pro385Ala
NM_001318825.1:c.1186C>G	NP_001305754.1:p.Pro396Ala
NR_134869.1:n.1575-379C>G
NM_000520.6:c.1153C>G MANE Select	NP_000511.2:p.Pro385Ala
NM_001318825.2:c.1186C>G	NP_001305754.1:p.Pro396Ala
NR_134869.2:n.1116-379C>G
NR_134869.3:n.1116-379C>G