Canonical Allele Identifier: CA393061979

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72640456G>C (hg19) ; chr15:g.72348115G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72348115G>C , CM000677.2:g.72348115G>C	GRCh38
NC_000015.9:g.72640456G>C , CM000677.1:g.72640456G>C	GRCh37
NC_000015.8:g.70427510G>C	NCBI36
NG_009017.1:g.33065C>G
NG_009017.2:g.33065C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000563908.2:n.3352C>G
ENST00000567027.6:c.1006C>G	ENSP00000457521.2:p.Gln336Glu
ENST00000682061.1:c.*668C>G	ENSP00000508316.1:n.*668C>G
ENST00000682177.1:c.1049C>G	ENSP00000507409.1:n.1049C>G
ENST00000682461.1:c.1112C>G	ENSP00000507308.1:n.1112C>G
ENST00000682653.1:n.1037C>G
ENST00000682657.1:c.*416C>G	ENSP00000507753.1:n.*416C>G
ENST00000682721.1:c.*809C>G	ENSP00000507535.1:n.*809C>G
ENST00000682843.1:c.*904C>G	ENSP00000508173.1:n.*904C>G
ENST00000683003.1:c.*416C>G	ENSP00000507576.1:n.*416C>G
ENST00000683133.1:c.1190C>G	ENSP00000508108.1:n.1190C>G
ENST00000683228.1:n.1037C>G
ENST00000683243.1:c.*416C>G	ENSP00000507042.1:n.*416C>G
ENST00000683463.1:c.1006C>G	ENSP00000507986.1:p.Gln336Glu
ENST00000683548.1:n.1037C>G
ENST00000683579.1:c.*904C>G	ENSP00000506867.1:n.*904C>G
ENST00000683587.1:n.1037C>G
ENST00000683681.1:c.1006C>G	ENSP00000508110.1:p.Gln336Glu
ENST00000683735.1:c.*904C>G	ENSP00000508336.1:n.*904C>G
ENST00000683742.1:n.837C>G
ENST00000683853.1:c.1006C>G	ENSP00000506834.1:p.Gln336Glu
ENST00000683860.1:c.1006C>G	ENSP00000507179.1:p.Gln336Glu
ENST00000683884.1:c.1006C>G	ENSP00000507004.1:p.Gln336Glu
ENST00000684041.1:c.1006C>G	ENSP00000508382.1:p.Gln336Glu
ENST00000684125.1:c.1006C>G	ENSP00000507320.1:p.Gln336Glu
ENST00000684203.1:n.2844C>G
ENST00000684231.1:c.*416C>G	ENSP00000507748.1:n.*416C>G
ENST00000684263.1:c.1006C>G	ENSP00000508369.1:p.Gln336Glu
ENST00000684305.1:c.1454C>G	ENSP00000506819.1:n.1454C>G
ENST00000684415.1:c.1006C>G	ENSP00000507227.1:p.Gln336Glu
ENST00000684520.1:c.1006C>G	ENSP00000506826.1:p.Gln336Glu
ENST00000684602.1:c.*672C>G	ENSP00000507996.1:n.*672C>G
ENST00000684667.1:c.1337C>G	ENSP00000507003.1:n.1337C>G
ENST00000268097.10:c.1006C>G MANE Select	ENSP00000268097.6:p.Gln336Glu
ENST00000268097.9:c.1006C>G	ENSP00000268097.5:p.Gln336Glu
ENST00000379915.4:c.413-1790C>G	ENSP00000478716.1:n.413-1790C>G
ENST00000563762.5:c.758C>G	ENSP00000456346.1:n.758C>G
ENST00000566304.5:c.1039C>G	ENSP00000455114.1:p.Gln347Glu
ENST00000566672.5:c.*416C>G	ENSP00000457037.1:n.*416C>G
ENST00000567027.5:c.878C>G
ENST00000567159.5:c.1006C>G	ENSP00000456489.1:p.Gln336Glu
ENST00000567411.5:c.*527C>G	ENSP00000455545.1:n.*527C>G
ENST00000568777.5:n.6410C>G
ENST00000569410.5:c.1006C>G	ENSP00000457125.1:p.Gln336Glu
NM_000520.4:c.1006C>G	NP_000511.2:p.Gln336Glu
NM_000520.5:c.1006C>G	NP_000511.2:p.Gln336Glu
NM_001318825.1:c.1039C>G	NP_001305754.1:p.Gln347Glu
NR_134869.1:n.1507C>G
NM_000520.6:c.1006C>G MANE Select	NP_000511.2:p.Gln336Glu
NM_001318825.2:c.1039C>G	NP_001305754.1:p.Gln347Glu
NR_134869.2:n.1048C>G
NR_134869.3:n.1048C>G