Canonical Allele Identifier: CA393058698

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637836G>C (hg19) ; chr15:g.72345495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345495G>C , CM000677.2:g.72345495G>C	GRCh38
NC_000015.9:g.72637836G>C , CM000677.1:g.72637836G>C	GRCh37
NC_000015.8:g.70424890G>C	NCBI36
NG_009017.1:g.35685C>G
NG_009017.2:g.35685C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*137C>G	ENSP00000457521.2:n.*137C>G
ENST00000682061.1:c.*1823C>G	ENSP00000508316.1:n.*1823C>G
ENST00000682064.1:n.1704C>G
ENST00000682177.1:c.1520C>G	ENSP00000507409.1:n.1520C>G
ENST00000682235.1:n.1500C>G
ENST00000682461.1:c.1583C>G	ENSP00000507308.1:n.1583C>G
ENST00000682653.1:n.2481C>G
ENST00000682657.1:c.*1314C>G	ENSP00000507753.1:n.*1314C>G
ENST00000682721.1:c.*1280C>G	ENSP00000507535.1:n.*1280C>G
ENST00000682843.1:c.*1118C>G	ENSP00000508173.1:n.*1118C>G
ENST00000683003.1:c.*1314C>G	ENSP00000507576.1:n.*1314C>G
ENST00000683133.1:c.1661C>G	ENSP00000508108.1:n.1661C>G
ENST00000683243.1:c.*630C>G	ENSP00000507042.1:n.*630C>G
ENST00000683463.1:c.*966C>G	ENSP00000507986.1:n.*966C>G
ENST00000683548.1:n.1935C>G
ENST00000683579.1:c.*1375C>G	ENSP00000506867.1:n.*1375C>G
ENST00000683587.1:n.2008C>G
ENST00000683681.1:c.*155C>G	ENSP00000508110.1:n.*155C>G
ENST00000683735.1:c.*1875C>G	ENSP00000508336.1:n.*1875C>G
ENST00000683853.1:c.*282C>G	ENSP00000506834.1:n.*282C>G
ENST00000683860.1:c.*597C>G	ENSP00000507179.1:n.*597C>G
ENST00000683884.1:c.*804C>G	ENSP00000507004.1:n.*804C>G
ENST00000684041.1:c.*610C>G	ENSP00000508382.1:n.*610C>G
ENST00000684125.1:c.*137C>G	ENSP00000507320.1:n.*137C>G
ENST00000684203.1:n.3926C>G
ENST00000684231.1:c.*887C>G	ENSP00000507748.1:n.*887C>G
ENST00000684263.1:c.*1101C>G	ENSP00000508369.1:n.*1101C>G
ENST00000684305.1:c.1925C>G	ENSP00000506819.1:n.1925C>G
ENST00000684415.1:c.*1028C>G	ENSP00000507227.1:n.*1028C>G
ENST00000684520.1:c.*736C>G	ENSP00000506826.1:n.*736C>G
ENST00000684602.1:c.*1143C>G	ENSP00000507996.1:n.*1143C>G
ENST00000684667.1:c.1808C>G	ENSP00000507003.1:n.1808C>G
ENST00000268097.10:c.1477C>G MANE Select	ENSP00000268097.6:p.Leu493Val
ENST00000268097.9:c.1477C>G	ENSP00000268097.5:p.Leu493Val
ENST00000379915.4:c.559C>G	ENSP00000478716.1:p.Leu187Val
ENST00000564677.5:n.269C>G
ENST00000565873.1:n.388C>G
ENST00000566304.5:c.1510C>G	ENSP00000455114.1:p.Leu504Val
ENST00000567027.5:c.1092C>G
ENST00000567159.5:c.1477C>G	ENSP00000456489.1:p.Leu493Val
ENST00000567411.5:c.*998C>G	ENSP00000455545.1:n.*998C>G
ENST00000568777.5:n.6697C>G
ENST00000569116.1:n.184C>G
NM_000520.4:c.1477C>G	NP_000511.2:p.Leu493Val
NM_000520.5:c.1477C>G	NP_000511.2:p.Leu493Val
NM_001318825.1:c.1510C>G	NP_001305754.1:p.Leu504Val
NR_134869.1:n.1721C>G
NM_000520.6:c.1477C>G MANE Select	NP_000511.2:p.Leu493Val
NM_001318825.2:c.1510C>G	NP_001305754.1:p.Leu504Val
NR_134869.2:n.1262C>G
NR_134869.3:n.1262C>G