Canonical Allele Identifier: CA491111452

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2900361
• ClinVar RCV Id: RCV003610970
• MyVariant Identifiers: chr15:g.72637840A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345499A>C , CM000677.2:g.72345499A>C	GRCh38
NC_000015.9:g.72637840A>C , CM000677.1:g.72637840A>C	GRCh37
NC_000015.8:g.70424894A>C	NCBI36
NG_009017.1:g.35681T>G
NG_009017.2:g.35681T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*133T>G	ENSP00000457521.2:n.*133T>G
ENST00000682061.1:c.*1819T>G	ENSP00000508316.1:n.*1819T>G
ENST00000682064.1:n.1700T>G
ENST00000682177.1:c.1516T>G	ENSP00000507409.1:n.1516T>G
ENST00000682235.1:n.1496T>G
ENST00000682461.1:c.1579T>G	ENSP00000507308.1:n.1579T>G
ENST00000682653.1:n.2477T>G
ENST00000682657.1:c.*1310T>G	ENSP00000507753.1:n.*1310T>G
ENST00000682721.1:c.*1276T>G	ENSP00000507535.1:n.*1276T>G
ENST00000682843.1:c.*1114T>G	ENSP00000508173.1:n.*1114T>G
ENST00000683003.1:c.*1310T>G	ENSP00000507576.1:n.*1310T>G
ENST00000683133.1:c.1657T>G	ENSP00000508108.1:n.1657T>G
ENST00000683243.1:c.*626T>G	ENSP00000507042.1:n.*626T>G
ENST00000683463.1:c.*962T>G	ENSP00000507986.1:n.*962T>G
ENST00000683548.1:n.1931T>G
ENST00000683579.1:c.*1371T>G	ENSP00000506867.1:n.*1371T>G
ENST00000683587.1:n.2004T>G
ENST00000683681.1:c.*151T>G	ENSP00000508110.1:n.*151T>G
ENST00000683735.1:c.*1871T>G	ENSP00000508336.1:n.*1871T>G
ENST00000683853.1:c.*278T>G	ENSP00000506834.1:n.*278T>G
ENST00000683860.1:c.*593T>G	ENSP00000507179.1:n.*593T>G
ENST00000683884.1:c.*800T>G	ENSP00000507004.1:n.*800T>G
ENST00000684041.1:c.*606T>G	ENSP00000508382.1:n.*606T>G
ENST00000684125.1:c.*133T>G	ENSP00000507320.1:n.*133T>G
ENST00000684203.1:n.3922T>G
ENST00000684231.1:c.*883T>G	ENSP00000507748.1:n.*883T>G
ENST00000684263.1:c.*1097T>G	ENSP00000508369.1:n.*1097T>G
ENST00000684305.1:c.1921T>G	ENSP00000506819.1:n.1921T>G
ENST00000684415.1:c.*1024T>G	ENSP00000507227.1:n.*1024T>G
ENST00000684520.1:c.*732T>G	ENSP00000506826.1:n.*732T>G
ENST00000684602.1:c.*1139T>G	ENSP00000507996.1:n.*1139T>G
ENST00000684667.1:c.1804T>G	ENSP00000507003.1:n.1804T>G
ENST00000268097.10:c.1473T>G MANE Select	ENSP00000268097.6:p.Ser491=
ENST00000268097.9:c.1473T>G	ENSP00000268097.5:p.Ser491=
ENST00000379915.4:c.555T>G	ENSP00000478716.1:p.Ser185=
ENST00000564677.5:n.265T>G
ENST00000565873.1:n.384T>G
ENST00000566304.5:c.1506T>G	ENSP00000455114.1:p.Ser502=
ENST00000567027.5:c.1088T>G
ENST00000567159.5:c.1473T>G	ENSP00000456489.1:p.Ser491=
ENST00000567411.5:c.*994T>G	ENSP00000455545.1:n.*994T>G
ENST00000568777.5:n.6693T>G
ENST00000569116.1:n.180T>G
NM_000520.4:c.1473T>G	NP_000511.2:p.Ser491=
NM_000520.5:c.1473T>G	NP_000511.2:p.Ser491=
NM_001318825.1:c.1506T>G	NP_001305754.1:p.Ser502=
NR_134869.1:n.1717T>G
NM_000520.6:c.1473T>G MANE Select	NP_000511.2:p.Ser491=
NM_001318825.2:c.1506T>G	NP_001305754.1:p.Ser502=
NR_134869.2:n.1258T>G
NR_134869.3:n.1258T>G