Canonical Allele Identifier: CA393063025

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1704300
• ClinVar RCV Id: RCV003149021
• MyVariant Identifiers: chr15:g.72642878G>C (hg19) ; chr15:g.72350537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350537G>C , CM000677.2:g.72350537G>C	GRCh38
NC_000015.9:g.72642878G>C , CM000677.1:g.72642878G>C	GRCh37
NC_000015.8:g.70429932G>C	NCBI36
NG_009017.1:g.30643C>G
NG_009017.2:g.30643C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3132C>G
ENST00000567027.6:c.786C>G	ENSP00000457521.2:p.His262Gln
ENST00000682061.1:c.*448C>G	ENSP00000508316.1:n.*448C>G
ENST00000682177.1:c.829C>G	ENSP00000507409.1:n.829C>G
ENST00000682461.1:c.892C>G	ENSP00000507308.1:n.892C>G
ENST00000682653.1:n.817C>G
ENST00000682657.1:c.*196C>G	ENSP00000507753.1:n.*196C>G
ENST00000682721.1:c.*589C>G	ENSP00000507535.1:n.*589C>G
ENST00000682843.1:c.*684C>G	ENSP00000508173.1:n.*684C>G
ENST00000683003.1:c.*196C>G	ENSP00000507576.1:n.*196C>G
ENST00000683133.1:c.970C>G	ENSP00000508108.1:n.970C>G
ENST00000683228.1:n.817C>G
ENST00000683243.1:c.*196C>G	ENSP00000507042.1:n.*196C>G
ENST00000683463.1:c.786C>G	ENSP00000507986.1:p.His262Gln
ENST00000683548.1:n.817C>G
ENST00000683579.1:c.*684C>G	ENSP00000506867.1:n.*684C>G
ENST00000683587.1:n.817C>G
ENST00000683681.1:c.786C>G	ENSP00000508110.1:p.His262Gln
ENST00000683735.1:c.*684C>G	ENSP00000508336.1:n.*684C>G
ENST00000683742.1:n.617C>G
ENST00000683853.1:c.786C>G	ENSP00000506834.1:p.His262Gln
ENST00000683860.1:c.786C>G	ENSP00000507179.1:p.His262Gln
ENST00000683884.1:c.786C>G	ENSP00000507004.1:p.His262Gln
ENST00000684041.1:c.786C>G	ENSP00000508382.1:p.His262Gln
ENST00000684125.1:c.786C>G	ENSP00000507320.1:p.His262Gln
ENST00000684203.1:n.2624C>G
ENST00000684231.1:c.*196C>G	ENSP00000507748.1:n.*196C>G
ENST00000684263.1:c.786C>G	ENSP00000508369.1:p.His262Gln
ENST00000684305.1:c.1234C>G	ENSP00000506819.1:n.1234C>G
ENST00000684415.1:c.786C>G	ENSP00000507227.1:p.His262Gln
ENST00000684520.1:c.786C>G	ENSP00000506826.1:p.His262Gln
ENST00000684602.1:c.*452C>G	ENSP00000507996.1:n.*452C>G
ENST00000684667.1:c.1117C>G	ENSP00000507003.1:n.1117C>G
ENST00000268097.10:c.786C>G MANE Select	ENSP00000268097.6:p.His262Gln
ENST00000268097.9:c.786C>G	ENSP00000268097.5:p.His262Gln
ENST00000379915.4:c.413-4212C>G	ENSP00000478716.1:n.413-4212C>G
ENST00000563762.5:c.719C>G	ENSP00000456346.1:n.719C>G
ENST00000566304.5:c.819C>G	ENSP00000455114.1:p.His273Gln
ENST00000566672.5:c.*196C>G	ENSP00000457037.1:n.*196C>G
ENST00000567027.5:c.658C>G
ENST00000567159.5:c.786C>G	ENSP00000456489.1:p.His262Gln
ENST00000567411.5:c.*307C>G	ENSP00000455545.1:n.*307C>G
ENST00000568777.5:n.6190C>G
ENST00000569410.5:c.786C>G	ENSP00000457125.1:p.His262Gln
NM_000520.4:c.786C>G	NP_000511.2:p.His262Gln
NM_000520.5:c.786C>G	NP_000511.2:p.His262Gln
NM_001318825.1:c.819C>G	NP_001305754.1:p.His273Gln
NR_134869.1:n.1287C>G
NM_000520.6:c.786C>G MANE Select	NP_000511.2:p.His262Gln
NM_001318825.2:c.819C>G	NP_001305754.1:p.His273Gln
NR_134869.2:n.828C>G
NR_134869.3:n.828C>G