Canonical Allele Identifier: CA393058817

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637863G>C (hg19) ; chr15:g.72345522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345522G>C , CM000677.2:g.72345522G>C	GRCh38
NC_000015.9:g.72637863G>C , CM000677.1:g.72637863G>C	GRCh37
NC_000015.8:g.70424917G>C	NCBI36
NG_009017.1:g.35658C>G
NG_009017.2:g.35658C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*110C>G	ENSP00000457521.2:n.*110C>G
ENST00000682061.1:c.*1796C>G	ENSP00000508316.1:n.*1796C>G
ENST00000682064.1:n.1677C>G
ENST00000682177.1:c.1493C>G	ENSP00000507409.1:n.1493C>G
ENST00000682235.1:n.1473C>G
ENST00000682461.1:c.1556C>G	ENSP00000507308.1:n.1556C>G
ENST00000682653.1:n.2454C>G
ENST00000682657.1:c.*1287C>G	ENSP00000507753.1:n.*1287C>G
ENST00000682721.1:c.*1253C>G	ENSP00000507535.1:n.*1253C>G
ENST00000682843.1:c.*1091C>G	ENSP00000508173.1:n.*1091C>G
ENST00000683003.1:c.*1287C>G	ENSP00000507576.1:n.*1287C>G
ENST00000683133.1:c.1634C>G	ENSP00000508108.1:n.1634C>G
ENST00000683243.1:c.*603C>G	ENSP00000507042.1:n.*603C>G
ENST00000683463.1:c.*939C>G	ENSP00000507986.1:n.*939C>G
ENST00000683548.1:n.1908C>G
ENST00000683579.1:c.*1348C>G	ENSP00000506867.1:n.*1348C>G
ENST00000683587.1:n.1981C>G
ENST00000683681.1:c.*128C>G	ENSP00000508110.1:n.*128C>G
ENST00000683735.1:c.*1848C>G	ENSP00000508336.1:n.*1848C>G
ENST00000683853.1:c.*255C>G	ENSP00000506834.1:n.*255C>G
ENST00000683860.1:c.*570C>G	ENSP00000507179.1:n.*570C>G
ENST00000683884.1:c.*777C>G	ENSP00000507004.1:n.*777C>G
ENST00000684041.1:c.*583C>G	ENSP00000508382.1:n.*583C>G
ENST00000684125.1:c.*110C>G	ENSP00000507320.1:n.*110C>G
ENST00000684203.1:n.3899C>G
ENST00000684231.1:c.*860C>G	ENSP00000507748.1:n.*860C>G
ENST00000684263.1:c.*1074C>G	ENSP00000508369.1:n.*1074C>G
ENST00000684305.1:c.1898C>G	ENSP00000506819.1:n.1898C>G
ENST00000684415.1:c.*1001C>G	ENSP00000507227.1:n.*1001C>G
ENST00000684520.1:c.*709C>G	ENSP00000506826.1:n.*709C>G
ENST00000684602.1:c.*1116C>G	ENSP00000507996.1:n.*1116C>G
ENST00000684667.1:c.1781C>G	ENSP00000507003.1:n.1781C>G
ENST00000268097.10:c.1450C>G MANE Select	ENSP00000268097.6:p.Leu484Val
ENST00000268097.9:c.1450C>G	ENSP00000268097.5:p.Leu484Val
ENST00000379915.4:c.532C>G	ENSP00000478716.1:p.Leu178Val
ENST00000564677.5:n.242C>G
ENST00000565873.1:n.361C>G
ENST00000566304.5:c.1483C>G	ENSP00000455114.1:p.Leu495Val
ENST00000567027.5:c.1065C>G
ENST00000567159.5:c.1450C>G	ENSP00000456489.1:p.Leu484Val
ENST00000567411.5:c.*971C>G	ENSP00000455545.1:n.*971C>G
ENST00000568777.5:n.6670C>G
ENST00000569116.1:n.157C>G
NM_000520.4:c.1450C>G	NP_000511.2:p.Leu484Val
NM_000520.5:c.1450C>G	NP_000511.2:p.Leu484Val
NM_001318825.1:c.1483C>G	NP_001305754.1:p.Leu495Val
NR_134869.1:n.1694C>G
NM_000520.6:c.1450C>G MANE Select	NP_000511.2:p.Leu484Val
NM_001318825.2:c.1483C>G	NP_001305754.1:p.Leu495Val
NR_134869.2:n.1235C>G
NR_134869.3:n.1235C>G