Canonical Allele Identifier: CA393058556

Gene: HEXA

Linked Data

• COSMIC: COSM6142825
• MyVariant Identifiers: chr15:g.72637811G>A (hg19) ; chr15:g.72345470G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*162C>T	ENSP00000457521.2:n.*162C>T
ENST00000682061.1:c.*1848C>T	ENSP00000508316.1:n.*1848C>T
ENST00000682064.1:n.1729C>T
ENST00000682177.1:c.1545C>T	ENSP00000507409.1:n.1545C>T
ENST00000682235.1:n.1525C>T
ENST00000682461.1:c.1608C>T	ENSP00000507308.1:n.1608C>T
ENST00000682653.1:n.2506C>T
ENST00000682657.1:c.*1339C>T	ENSP00000507753.1:n.*1339C>T
ENST00000682721.1:c.*1305C>T	ENSP00000507535.1:n.*1305C>T
ENST00000682843.1:c.*1143C>T	ENSP00000508173.1:n.*1143C>T
ENST00000683003.1:c.*1339C>T	ENSP00000507576.1:n.*1339C>T
ENST00000683133.1:c.1686C>T	ENSP00000508108.1:n.1686C>T
ENST00000683243.1:c.*655C>T	ENSP00000507042.1:n.*655C>T
ENST00000683463.1:c.*991C>T	ENSP00000507986.1:n.*991C>T
ENST00000683548.1:n.1960C>T
ENST00000683579.1:c.*1400C>T	ENSP00000506867.1:n.*1400C>T
ENST00000683587.1:n.2033C>T
ENST00000683681.1:c.*180C>T	ENSP00000508110.1:n.*180C>T
ENST00000683735.1:c.*1900C>T	ENSP00000508336.1:n.*1900C>T
ENST00000683853.1:c.*307C>T	ENSP00000506834.1:n.*307C>T
ENST00000683860.1:c.*622C>T	ENSP00000507179.1:n.*622C>T
ENST00000683884.1:c.*829C>T	ENSP00000507004.1:n.*829C>T
ENST00000684041.1:c.*635C>T	ENSP00000508382.1:n.*635C>T
ENST00000684125.1:c.*162C>T	ENSP00000507320.1:n.*162C>T
ENST00000684203.1:n.3951C>T
ENST00000684231.1:c.*912C>T	ENSP00000507748.1:n.*912C>T
ENST00000684263.1:c.*1126C>T	ENSP00000508369.1:n.*1126C>T
ENST00000684305.1:c.1950C>T	ENSP00000506819.1:n.1950C>T
ENST00000684415.1:c.*1053C>T	ENSP00000507227.1:n.*1053C>T
ENST00000684520.1:c.*761C>T	ENSP00000506826.1:n.*761C>T
ENST00000684602.1:c.*1168C>T	ENSP00000507996.1:n.*1168C>T
ENST00000684667.1:c.1833C>T	ENSP00000507003.1:n.1833C>T
ENST00000268097.10:c.1502C>T MANE Select	ENSP00000268097.6:p.Ser501Leu
ENST00000268097.9:c.1502C>T	ENSP00000268097.5:p.Ser501Leu
ENST00000379915.4:c.584C>T	ENSP00000478716.1:p.Ser195Leu
ENST00000564677.5:n.294C>T
ENST00000565873.1:n.413C>T
ENST00000566304.5:c.1535C>T	ENSP00000455114.1:p.Ser512Leu
ENST00000567027.5:c.1117C>T
ENST00000567159.5:c.1502C>T	ENSP00000456489.1:p.Ser501Leu
ENST00000567411.5:c.*1023C>T	ENSP00000455545.1:n.*1023C>T
ENST00000568777.5:n.6722C>T
ENST00000569116.1:n.209C>T
NM_000520.4:c.1502C>T	NP_000511.2:p.Ser501Leu
NM_000520.5:c.1502C>T	NP_000511.2:p.Ser501Leu
NM_001318825.1:c.1535C>T	NP_001305754.1:p.Ser512Leu
NR_134869.1:n.1746C>T
NM_000520.6:c.1502C>T MANE Select	NP_000511.2:p.Ser501Leu
NM_001318825.2:c.1535C>T	NP_001305754.1:p.Ser512Leu
NR_134869.2:n.1287C>T
NR_134869.3:n.1287C>T