Canonical Allele Identifier: CA393058560

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637811G>T (hg19) ; chr15:g.72345470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345470G>T , CM000677.2:g.72345470G>T	GRCh38
NC_000015.9:g.72637811G>T , CM000677.1:g.72637811G>T	GRCh37
NC_000015.8:g.70424865G>T	NCBI36
NG_009017.1:g.35710C>A
NG_009017.2:g.35710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*162C>A	ENSP00000457521.2:n.*162C>A
ENST00000682061.1:c.*1848C>A	ENSP00000508316.1:n.*1848C>A
ENST00000682064.1:n.1729C>A
ENST00000682177.1:c.1545C>A	ENSP00000507409.1:n.1545C>A
ENST00000682235.1:n.1525C>A
ENST00000682461.1:c.1608C>A	ENSP00000507308.1:n.1608C>A
ENST00000682653.1:n.2506C>A
ENST00000682657.1:c.*1339C>A	ENSP00000507753.1:n.*1339C>A
ENST00000682721.1:c.*1305C>A	ENSP00000507535.1:n.*1305C>A
ENST00000682843.1:c.*1143C>A	ENSP00000508173.1:n.*1143C>A
ENST00000683003.1:c.*1339C>A	ENSP00000507576.1:n.*1339C>A
ENST00000683133.1:c.1686C>A	ENSP00000508108.1:n.1686C>A
ENST00000683243.1:c.*655C>A	ENSP00000507042.1:n.*655C>A
ENST00000683463.1:c.*991C>A	ENSP00000507986.1:n.*991C>A
ENST00000683548.1:n.1960C>A
ENST00000683579.1:c.*1400C>A	ENSP00000506867.1:n.*1400C>A
ENST00000683587.1:n.2033C>A
ENST00000683681.1:c.*180C>A	ENSP00000508110.1:n.*180C>A
ENST00000683735.1:c.*1900C>A	ENSP00000508336.1:n.*1900C>A
ENST00000683853.1:c.*307C>A	ENSP00000506834.1:n.*307C>A
ENST00000683860.1:c.*622C>A	ENSP00000507179.1:n.*622C>A
ENST00000683884.1:c.*829C>A	ENSP00000507004.1:n.*829C>A
ENST00000684041.1:c.*635C>A	ENSP00000508382.1:n.*635C>A
ENST00000684125.1:c.*162C>A	ENSP00000507320.1:n.*162C>A
ENST00000684203.1:n.3951C>A
ENST00000684231.1:c.*912C>A	ENSP00000507748.1:n.*912C>A
ENST00000684263.1:c.*1126C>A	ENSP00000508369.1:n.*1126C>A
ENST00000684305.1:c.1950C>A	ENSP00000506819.1:n.1950C>A
ENST00000684415.1:c.*1053C>A	ENSP00000507227.1:n.*1053C>A
ENST00000684520.1:c.*761C>A	ENSP00000506826.1:n.*761C>A
ENST00000684602.1:c.*1168C>A	ENSP00000507996.1:n.*1168C>A
ENST00000684667.1:c.1833C>A	ENSP00000507003.1:n.1833C>A
ENST00000268097.10:c.1502C>A MANE Select	ENSP00000268097.6:p.Ser501Ter
ENST00000268097.9:c.1502C>A	ENSP00000268097.5:p.Ser501Ter
ENST00000379915.4:c.584C>A	ENSP00000478716.1:p.Ser195Ter
ENST00000564677.5:n.294C>A
ENST00000565873.1:n.413C>A
ENST00000566304.5:c.1535C>A	ENSP00000455114.1:p.Ser512Ter
ENST00000567027.5:c.1117C>A
ENST00000567159.5:c.1502C>A	ENSP00000456489.1:p.Ser501Ter
ENST00000567411.5:c.*1023C>A	ENSP00000455545.1:n.*1023C>A
ENST00000568777.5:n.6722C>A
ENST00000569116.1:n.209C>A
NM_000520.4:c.1502C>A	NP_000511.2:p.Ser501Ter
NM_000520.5:c.1502C>A	NP_000511.2:p.Ser501Ter
NM_001318825.1:c.1535C>A	NP_001305754.1:p.Ser512Ter
NR_134869.1:n.1746C>A
NM_000520.6:c.1502C>A MANE Select	NP_000511.2:p.Ser501Ter
NM_001318825.2:c.1535C>A	NP_001305754.1:p.Ser512Ter
NR_134869.2:n.1287C>A
NR_134869.3:n.1287C>A