Canonical Allele Identifier: CA393058448

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637793A>C (hg19) ; chr15:g.72345452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345452A>C , CM000677.2:g.72345452A>C	GRCh38
NC_000015.9:g.72637793A>C , CM000677.1:g.72637793A>C	GRCh37
NC_000015.8:g.70424847A>C	NCBI36
NG_009017.1:g.35728T>G
NG_009017.2:g.35728T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*180T>G	ENSP00000457521.2:n.*180T>G
ENST00000682061.1:c.*1866T>G	ENSP00000508316.1:n.*1866T>G
ENST00000682064.1:n.1747T>G
ENST00000682177.1:c.1563T>G	ENSP00000507409.1:n.1563T>G
ENST00000682235.1:n.1543T>G
ENST00000682461.1:c.1626T>G	ENSP00000507308.1:n.1626T>G
ENST00000682653.1:n.2524T>G
ENST00000682657.1:c.*1357T>G	ENSP00000507753.1:n.*1357T>G
ENST00000682721.1:c.*1323T>G	ENSP00000507535.1:n.*1323T>G
ENST00000682843.1:c.*1161T>G	ENSP00000508173.1:n.*1161T>G
ENST00000683003.1:c.*1357T>G	ENSP00000507576.1:n.*1357T>G
ENST00000683133.1:c.1704T>G	ENSP00000508108.1:n.1704T>G
ENST00000683243.1:c.*673T>G	ENSP00000507042.1:n.*673T>G
ENST00000683463.1:c.*1009T>G	ENSP00000507986.1:n.*1009T>G
ENST00000683548.1:n.1978T>G
ENST00000683579.1:c.*1418T>G	ENSP00000506867.1:n.*1418T>G
ENST00000683587.1:n.2051T>G
ENST00000683681.1:c.*198T>G	ENSP00000508110.1:n.*198T>G
ENST00000683735.1:c.*1918T>G	ENSP00000508336.1:n.*1918T>G
ENST00000683853.1:c.*325T>G	ENSP00000506834.1:n.*325T>G
ENST00000683860.1:c.*640T>G	ENSP00000507179.1:n.*640T>G
ENST00000683884.1:c.*847T>G	ENSP00000507004.1:n.*847T>G
ENST00000684125.1:c.*180T>G	ENSP00000507320.1:n.*180T>G
ENST00000684203.1:n.3969T>G
ENST00000684231.1:c.*930T>G	ENSP00000507748.1:n.*930T>G
ENST00000684263.1:c.*1144T>G	ENSP00000508369.1:n.*1144T>G
ENST00000684305.1:c.1968T>G	ENSP00000506819.1:n.1968T>G
ENST00000684415.1:c.*1071T>G	ENSP00000507227.1:n.*1071T>G
ENST00000684520.1:c.*779T>G	ENSP00000506826.1:n.*779T>G
ENST00000684602.1:c.*1186T>G	ENSP00000507996.1:n.*1186T>G
ENST00000684667.1:c.1851T>G	ENSP00000507003.1:n.1851T>G
ENST00000268097.10:c.1520T>G MANE Select	ENSP00000268097.6:p.Leu507Trp
ENST00000268097.9:c.1520T>G	ENSP00000268097.5:p.Leu507Trp
ENST00000379915.4:c.602T>G	ENSP00000478716.1:p.Leu201Trp
ENST00000564677.5:n.312T>G
ENST00000565873.1:n.431T>G
ENST00000566304.5:c.1553T>G	ENSP00000455114.1:p.Leu518Trp
ENST00000567027.5:c.1135T>G
ENST00000567159.5:c.1520T>G	ENSP00000456489.1:p.Leu507Trp
ENST00000567411.5:c.*1041T>G	ENSP00000455545.1:n.*1041T>G
ENST00000568777.5:n.6740T>G
ENST00000569116.1:n.227T>G
NM_000520.4:c.1520T>G	NP_000511.2:p.Leu507Trp
NM_000520.5:c.1520T>G	NP_000511.2:p.Leu507Trp
NM_001318825.1:c.1553T>G	NP_001305754.1:p.Leu518Trp
NR_134869.1:n.1764T>G
NM_000520.6:c.1520T>G MANE Select	NP_000511.2:p.Leu507Trp
NM_001318825.2:c.1553T>G	NP_001305754.1:p.Leu518Trp
NR_134869.2:n.1305T>G
NR_134869.3:n.1305T>G