Canonical Allele Identifier: CA491111379

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637828A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345487A>G , CM000677.2:g.72345487A>G	GRCh38
NC_000015.9:g.72637828A>G , CM000677.1:g.72637828A>G	GRCh37
NC_000015.8:g.70424882A>G	NCBI36
NG_009017.1:g.35693T>C
NG_009017.2:g.35693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*145T>C	ENSP00000457521.2:n.*145T>C
ENST00000682061.1:c.*1831T>C	ENSP00000508316.1:n.*1831T>C
ENST00000682064.1:n.1712T>C
ENST00000682177.1:c.1528T>C	ENSP00000507409.1:n.1528T>C
ENST00000682235.1:n.1508T>C
ENST00000682461.1:c.1591T>C	ENSP00000507308.1:n.1591T>C
ENST00000682653.1:n.2489T>C
ENST00000682657.1:c.*1322T>C	ENSP00000507753.1:n.*1322T>C
ENST00000682721.1:c.*1288T>C	ENSP00000507535.1:n.*1288T>C
ENST00000682843.1:c.*1126T>C	ENSP00000508173.1:n.*1126T>C
ENST00000683003.1:c.*1322T>C	ENSP00000507576.1:n.*1322T>C
ENST00000683133.1:c.1669T>C	ENSP00000508108.1:n.1669T>C
ENST00000683243.1:c.*638T>C	ENSP00000507042.1:n.*638T>C
ENST00000683463.1:c.*974T>C	ENSP00000507986.1:n.*974T>C
ENST00000683548.1:n.1943T>C
ENST00000683579.1:c.*1383T>C	ENSP00000506867.1:n.*1383T>C
ENST00000683587.1:n.2016T>C
ENST00000683681.1:c.*163T>C	ENSP00000508110.1:n.*163T>C
ENST00000683735.1:c.*1883T>C	ENSP00000508336.1:n.*1883T>C
ENST00000683853.1:c.*290T>C	ENSP00000506834.1:n.*290T>C
ENST00000683860.1:c.*605T>C	ENSP00000507179.1:n.*605T>C
ENST00000683884.1:c.*812T>C	ENSP00000507004.1:n.*812T>C
ENST00000684041.1:c.*618T>C	ENSP00000508382.1:n.*618T>C
ENST00000684125.1:c.*145T>C	ENSP00000507320.1:n.*145T>C
ENST00000684203.1:n.3934T>C
ENST00000684231.1:c.*895T>C	ENSP00000507748.1:n.*895T>C
ENST00000684263.1:c.*1109T>C	ENSP00000508369.1:n.*1109T>C
ENST00000684305.1:c.1933T>C	ENSP00000506819.1:n.1933T>C
ENST00000684415.1:c.*1036T>C	ENSP00000507227.1:n.*1036T>C
ENST00000684520.1:c.*744T>C	ENSP00000506826.1:n.*744T>C
ENST00000684602.1:c.*1151T>C	ENSP00000507996.1:n.*1151T>C
ENST00000684667.1:c.1816T>C	ENSP00000507003.1:n.1816T>C
ENST00000268097.10:c.1485T>C MANE Select	ENSP00000268097.6:p.Phe495=
ENST00000268097.9:c.1485T>C	ENSP00000268097.5:p.Phe495=
ENST00000379915.4:c.567T>C	ENSP00000478716.1:p.Phe189=
ENST00000564677.5:n.277T>C
ENST00000565873.1:n.396T>C
ENST00000566304.5:c.1518T>C	ENSP00000455114.1:p.Phe506=
ENST00000567027.5:c.1100T>C
ENST00000567159.5:c.1485T>C	ENSP00000456489.1:p.Phe495=
ENST00000567411.5:c.*1006T>C	ENSP00000455545.1:n.*1006T>C
ENST00000568777.5:n.6705T>C
ENST00000569116.1:n.192T>C
NM_000520.4:c.1485T>C	NP_000511.2:p.Phe495=
NM_000520.5:c.1485T>C	NP_000511.2:p.Phe495=
NM_001318825.1:c.1518T>C	NP_001305754.1:p.Phe506=
NR_134869.1:n.1729T>C
NM_000520.6:c.1485T>C MANE Select	NP_000511.2:p.Phe495=
NM_001318825.2:c.1518T>C	NP_001305754.1:p.Phe506=
NR_134869.2:n.1270T>C
NR_134869.3:n.1270T>C