Canonical Allele Identifier: CA393059414

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2432445
• ClinVar RCV Id: RCV003131127
• MyVariant Identifiers: chr15:g.72638664T>C (hg19) ; chr15:g.72346323T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346323T>C , CM000677.2:g.72346323T>C	GRCh38
NC_000015.9:g.72638664T>C , CM000677.1:g.72638664T>C	GRCh37
NC_000015.8:g.70425718T>C	NCBI36
NG_009017.1:g.34857A>G
NG_009017.2:g.34857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1076A>G	ENSP00000457521.2:p.Tyr359Cys
ENST00000682061.1:c.*995A>G	ENSP00000508316.1:n.*995A>G
ENST00000682064.1:n.876A>G
ENST00000682177.1:c.1376A>G	ENSP00000507409.1:n.1376A>G
ENST00000682235.1:n.672A>G
ENST00000682461.1:c.1439A>G	ENSP00000507308.1:n.1439A>G
ENST00000682653.1:n.1653A>G
ENST00000682657.1:c.*486A>G	ENSP00000507753.1:n.*486A>G
ENST00000682721.1:c.*1136A>G	ENSP00000507535.1:n.*1136A>G
ENST00000682843.1:c.*974A>G	ENSP00000508173.1:n.*974A>G
ENST00000683003.1:c.*486A>G	ENSP00000507576.1:n.*486A>G
ENST00000683133.1:c.1517A>G	ENSP00000508108.1:n.1517A>G
ENST00000683243.1:c.*486A>G	ENSP00000507042.1:n.*486A>G
ENST00000683463.1:c.*138A>G	ENSP00000507986.1:n.*138A>G
ENST00000683548.1:n.1107A>G
ENST00000683579.1:c.*1231A>G	ENSP00000506867.1:n.*1231A>G
ENST00000683587.1:n.1180A>G
ENST00000683681.1:c.1333A>G	ENSP00000508110.1:p.Thr445Ala
ENST00000683735.1:c.*1047A>G	ENSP00000508336.1:n.*1047A>G
ENST00000683853.1:c.*138A>G	ENSP00000506834.1:n.*138A>G
ENST00000683860.1:c.1333A>G	ENSP00000507179.1:p.Thr445Ala
ENST00000683884.1:c.1149A>G	ENSP00000507004.1:p.Val383=
ENST00000684041.1:c.1333A>G	ENSP00000508382.1:p.Thr445Ala
ENST00000684125.1:c.1076A>G	ENSP00000507320.1:p.Tyr359Cys
ENST00000684203.1:n.3098A>G
ENST00000684231.1:c.*743A>G	ENSP00000507748.1:n.*743A>G
ENST00000684263.1:c.*273A>G	ENSP00000508369.1:n.*273A>G
ENST00000684305.1:c.1781A>G	ENSP00000506819.1:n.1781A>G
ENST00000684415.1:c.*200A>G	ENSP00000507227.1:n.*200A>G
ENST00000684520.1:c.1333A>G	ENSP00000506826.1:p.Thr445Ala
ENST00000684602.1:c.*999A>G	ENSP00000507996.1:n.*999A>G
ENST00000684667.1:c.1664A>G	ENSP00000507003.1:n.1664A>G
ENST00000268097.10:c.1333A>G MANE Select	ENSP00000268097.6:p.Thr445Ala
ENST00000268097.9:c.1333A>G	ENSP00000268097.5:p.Thr445Ala
ENST00000379915.4:c.415A>G	ENSP00000478716.1:p.Thr139Ala
ENST00000563762.5:c.828A>G	ENSP00000456346.1:n.828A>G
ENST00000566304.5:c.1366A>G	ENSP00000455114.1:p.Thr456Ala
ENST00000566672.5:c.*743A>G	ENSP00000457037.1:n.*743A>G
ENST00000567027.5:c.948A>G
ENST00000567159.5:c.1333A>G	ENSP00000456489.1:p.Thr445Ala
ENST00000567411.5:c.*854A>G	ENSP00000455545.1:n.*854A>G
ENST00000568777.5:n.6553A>G
ENST00000569410.5:c.*138A>G	ENSP00000457125.1:n.*138A>G
NM_000520.4:c.1333A>G	NP_000511.2:p.Thr445Ala
NM_000520.5:c.1333A>G	NP_000511.2:p.Thr445Ala
NM_001318825.1:c.1366A>G	NP_001305754.1:p.Thr456Ala
NR_134869.1:n.1577A>G
NM_000520.6:c.1333A>G MANE Select	NP_000511.2:p.Thr445Ala
NM_001318825.2:c.1366A>G	NP_001305754.1:p.Thr456Ala
NR_134869.2:n.1118A>G
NR_134869.3:n.1118A>G