Canonical Allele Identifier: CA491111580

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637855G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345514G>A , CM000677.2:g.72345514G>A	GRCh38
NC_000015.9:g.72637855G>A , CM000677.1:g.72637855G>A	GRCh37
NC_000015.8:g.70424909G>A	NCBI36
NG_009017.1:g.35666C>T
NG_009017.2:g.35666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*118C>T	ENSP00000457521.2:n.*118C>T
ENST00000682061.1:c.*1804C>T	ENSP00000508316.1:n.*1804C>T
ENST00000682064.1:n.1685C>T
ENST00000682177.1:c.1501C>T	ENSP00000507409.1:n.1501C>T
ENST00000682235.1:n.1481C>T
ENST00000682461.1:c.1564C>T	ENSP00000507308.1:n.1564C>T
ENST00000682653.1:n.2462C>T
ENST00000682657.1:c.*1295C>T	ENSP00000507753.1:n.*1295C>T
ENST00000682721.1:c.*1261C>T	ENSP00000507535.1:n.*1261C>T
ENST00000682843.1:c.*1099C>T	ENSP00000508173.1:n.*1099C>T
ENST00000683003.1:c.*1295C>T	ENSP00000507576.1:n.*1295C>T
ENST00000683133.1:c.1642C>T	ENSP00000508108.1:n.1642C>T
ENST00000683243.1:c.*611C>T	ENSP00000507042.1:n.*611C>T
ENST00000683463.1:c.*947C>T	ENSP00000507986.1:n.*947C>T
ENST00000683548.1:n.1916C>T
ENST00000683579.1:c.*1356C>T	ENSP00000506867.1:n.*1356C>T
ENST00000683587.1:n.1989C>T
ENST00000683681.1:c.*136C>T	ENSP00000508110.1:n.*136C>T
ENST00000683735.1:c.*1856C>T	ENSP00000508336.1:n.*1856C>T
ENST00000683853.1:c.*263C>T	ENSP00000506834.1:n.*263C>T
ENST00000683860.1:c.*578C>T	ENSP00000507179.1:n.*578C>T
ENST00000683884.1:c.*785C>T	ENSP00000507004.1:n.*785C>T
ENST00000684041.1:c.*591C>T	ENSP00000508382.1:n.*591C>T
ENST00000684125.1:c.*118C>T	ENSP00000507320.1:n.*118C>T
ENST00000684203.1:n.3907C>T
ENST00000684231.1:c.*868C>T	ENSP00000507748.1:n.*868C>T
ENST00000684263.1:c.*1082C>T	ENSP00000508369.1:n.*1082C>T
ENST00000684305.1:c.1906C>T	ENSP00000506819.1:n.1906C>T
ENST00000684415.1:c.*1009C>T	ENSP00000507227.1:n.*1009C>T
ENST00000684520.1:c.*717C>T	ENSP00000506826.1:n.*717C>T
ENST00000684602.1:c.*1124C>T	ENSP00000507996.1:n.*1124C>T
ENST00000684667.1:c.1789C>T	ENSP00000507003.1:n.1789C>T
ENST00000268097.10:c.1458C>T MANE Select	ENSP00000268097.6:p.Ser486=
ENST00000268097.9:c.1458C>T	ENSP00000268097.5:p.Ser486=
ENST00000379915.4:c.540C>T	ENSP00000478716.1:p.Ser180=
ENST00000564677.5:n.250C>T
ENST00000565873.1:n.369C>T
ENST00000566304.5:c.1491C>T	ENSP00000455114.1:p.Ser497=
ENST00000567027.5:c.1073C>T
ENST00000567159.5:c.1458C>T	ENSP00000456489.1:p.Ser486=
ENST00000567411.5:c.*979C>T	ENSP00000455545.1:n.*979C>T
ENST00000568777.5:n.6678C>T
ENST00000569116.1:n.165C>T
NM_000520.4:c.1458C>T	NP_000511.2:p.Ser486=
NM_000520.5:c.1458C>T	NP_000511.2:p.Ser486=
NM_001318825.1:c.1491C>T	NP_001305754.1:p.Ser497=
NR_134869.1:n.1702C>T
NM_000520.6:c.1458C>T MANE Select	NP_000511.2:p.Ser486=
NM_001318825.2:c.1491C>T	NP_001305754.1:p.Ser497=
NR_134869.2:n.1243C>T
NR_134869.3:n.1243C>T