Canonical Allele Identifier: CA393058650

Gene: HEXA

Linked Data

• dbSNP Id: rs373781108
• gnomAD v2: 15-72637826-G-A
• COSMIC: COSM4056689
• MyVariant Identifiers: chr15:g.72637826G>A (hg19) ; chr15:g.72345485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345485G>A , CM000677.2:g.72345485G>A	GRCh38
NC_000015.9:g.72637826G>A , CM000677.1:g.72637826G>A	GRCh37
NC_000015.8:g.70424880G>A	NCBI36
NG_009017.1:g.35695C>T
NG_009017.2:g.35695C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*147C>T	ENSP00000457521.2:n.*147C>T
ENST00000682061.1:c.*1833C>T	ENSP00000508316.1:n.*1833C>T
ENST00000682064.1:n.1714C>T
ENST00000682177.1:c.1530C>T	ENSP00000507409.1:n.1530C>T
ENST00000682235.1:n.1510C>T
ENST00000682461.1:c.1593C>T	ENSP00000507308.1:n.1593C>T
ENST00000682653.1:n.2491C>T
ENST00000682657.1:c.*1324C>T	ENSP00000507753.1:n.*1324C>T
ENST00000682721.1:c.*1290C>T	ENSP00000507535.1:n.*1290C>T
ENST00000682843.1:c.*1128C>T	ENSP00000508173.1:n.*1128C>T
ENST00000683003.1:c.*1324C>T	ENSP00000507576.1:n.*1324C>T
ENST00000683133.1:c.1671C>T	ENSP00000508108.1:n.1671C>T
ENST00000683243.1:c.*640C>T	ENSP00000507042.1:n.*640C>T
ENST00000683463.1:c.*976C>T	ENSP00000507986.1:n.*976C>T
ENST00000683548.1:n.1945C>T
ENST00000683579.1:c.*1385C>T	ENSP00000506867.1:n.*1385C>T
ENST00000683587.1:n.2018C>T
ENST00000683681.1:c.*165C>T	ENSP00000508110.1:n.*165C>T
ENST00000683735.1:c.*1885C>T	ENSP00000508336.1:n.*1885C>T
ENST00000683853.1:c.*292C>T	ENSP00000506834.1:n.*292C>T
ENST00000683860.1:c.*607C>T	ENSP00000507179.1:n.*607C>T
ENST00000683884.1:c.*814C>T	ENSP00000507004.1:n.*814C>T
ENST00000684041.1:c.*620C>T	ENSP00000508382.1:n.*620C>T
ENST00000684125.1:c.*147C>T	ENSP00000507320.1:n.*147C>T
ENST00000684203.1:n.3936C>T
ENST00000684231.1:c.*897C>T	ENSP00000507748.1:n.*897C>T
ENST00000684263.1:c.*1111C>T	ENSP00000508369.1:n.*1111C>T
ENST00000684305.1:c.1935C>T	ENSP00000506819.1:n.1935C>T
ENST00000684415.1:c.*1038C>T	ENSP00000507227.1:n.*1038C>T
ENST00000684520.1:c.*746C>T	ENSP00000506826.1:n.*746C>T
ENST00000684602.1:c.*1153C>T	ENSP00000507996.1:n.*1153C>T
ENST00000684667.1:c.1818C>T	ENSP00000507003.1:n.1818C>T
ENST00000268097.10:c.1487C>T MANE Select	ENSP00000268097.6:p.Ala496Val
ENST00000268097.9:c.1487C>T	ENSP00000268097.5:p.Ala496Val
ENST00000379915.4:c.569C>T	ENSP00000478716.1:p.Ala190Val
ENST00000564677.5:n.279C>T
ENST00000565873.1:n.398C>T
ENST00000566304.5:c.1520C>T	ENSP00000455114.1:p.Ala507Val
ENST00000567027.5:c.1102C>T
ENST00000567159.5:c.1487C>T	ENSP00000456489.1:p.Ala496Val
ENST00000567411.5:c.*1008C>T	ENSP00000455545.1:n.*1008C>T
ENST00000568777.5:n.6707C>T
ENST00000569116.1:n.194C>T
NM_000520.4:c.1487C>T	NP_000511.2:p.Ala496Val
NM_000520.5:c.1487C>T	NP_000511.2:p.Ala496Val
NM_001318825.1:c.1520C>T	NP_001305754.1:p.Ala507Val
NR_134869.1:n.1731C>T
NM_000520.6:c.1487C>T MANE Select	NP_000511.2:p.Ala496Val
NM_001318825.2:c.1520C>T	NP_001305754.1:p.Ala507Val
NR_134869.2:n.1272C>T
NR_134869.3:n.1272C>T