Canonical Allele Identifier: CA393059218

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2002301
• ClinVar RCV Id: RCV002820299
• MyVariant Identifiers: chr15:g.72638620C>T (hg19) ; chr15:g.72346279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346279C>T , CM000677.2:g.72346279C>T	GRCh38
NC_000015.9:g.72638620C>T , CM000677.1:g.72638620C>T	GRCh37
NC_000015.8:g.70425674C>T	NCBI36
NG_009017.1:g.34901G>A
NG_009017.2:g.34901G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*37G>A	ENSP00000457521.2:n.*37G>A
ENST00000682061.1:c.*1039G>A	ENSP00000508316.1:n.*1039G>A
ENST00000682064.1:n.920G>A
ENST00000682177.1:c.1420G>A	ENSP00000507409.1:n.1420G>A
ENST00000682235.1:n.716G>A
ENST00000682461.1:c.1483G>A	ENSP00000507308.1:n.1483G>A
ENST00000682653.1:n.1697G>A
ENST00000682657.1:c.*530G>A	ENSP00000507753.1:n.*530G>A
ENST00000682721.1:c.*1180G>A	ENSP00000507535.1:n.*1180G>A
ENST00000682843.1:c.*1018G>A	ENSP00000508173.1:n.*1018G>A
ENST00000683003.1:c.*530G>A	ENSP00000507576.1:n.*530G>A
ENST00000683133.1:c.1561G>A	ENSP00000508108.1:n.1561G>A
ENST00000683243.1:c.*530G>A	ENSP00000507042.1:n.*530G>A
ENST00000683463.1:c.*182G>A	ENSP00000507986.1:n.*182G>A
ENST00000683548.1:n.1151G>A
ENST00000683579.1:c.*1275G>A	ENSP00000506867.1:n.*1275G>A
ENST00000683587.1:n.1224G>A
ENST00000683681.1:c.1377G>A	ENSP00000508110.1:p.Met459Ile
ENST00000683735.1:c.*1091G>A	ENSP00000508336.1:n.*1091G>A
ENST00000683853.1:c.*182G>A	ENSP00000506834.1:n.*182G>A
ENST00000683860.1:c.1377G>A	ENSP00000507179.1:p.Met459Ile
ENST00000683884.1:c.*20G>A	ENSP00000507004.1:n.*20G>A
ENST00000684041.1:c.1377G>A	ENSP00000508382.1:p.Met459Ile
ENST00000684125.1:c.*37G>A	ENSP00000507320.1:n.*37G>A
ENST00000684203.1:n.3142G>A
ENST00000684231.1:c.*787G>A	ENSP00000507748.1:n.*787G>A
ENST00000684263.1:c.*317G>A	ENSP00000508369.1:n.*317G>A
ENST00000684305.1:c.1825G>A	ENSP00000506819.1:n.1825G>A
ENST00000684415.1:c.*244G>A	ENSP00000507227.1:n.*244G>A
ENST00000684520.1:c.1377G>A	ENSP00000506826.1:p.Met459Ile
ENST00000684602.1:c.*1043G>A	ENSP00000507996.1:n.*1043G>A
ENST00000684667.1:c.1708G>A	ENSP00000507003.1:n.1708G>A
ENST00000268097.10:c.1377G>A MANE Select	ENSP00000268097.6:p.Met459Ile
ENST00000268097.9:c.1377G>A	ENSP00000268097.5:p.Met459Ile
ENST00000379915.4:c.459G>A	ENSP00000478716.1:p.Met153Ile
ENST00000563762.5:c.872G>A	ENSP00000456346.1:n.872G>A
ENST00000566304.5:c.1410G>A	ENSP00000455114.1:p.Met470Ile
ENST00000566672.5:c.*787G>A	ENSP00000457037.1:n.*787G>A
ENST00000567027.5:c.992G>A
ENST00000567159.5:c.1377G>A	ENSP00000456489.1:p.Met459Ile
ENST00000567411.5:c.*898G>A	ENSP00000455545.1:n.*898G>A
ENST00000568777.5:n.6597G>A
ENST00000569410.5:c.*182G>A	ENSP00000457125.1:n.*182G>A
NM_000520.4:c.1377G>A	NP_000511.2:p.Met459Ile
NM_000520.5:c.1377G>A	NP_000511.2:p.Met459Ile
NM_001318825.1:c.1410G>A	NP_001305754.1:p.Met470Ile
NR_134869.1:n.1621G>A
NM_000520.6:c.1377G>A MANE Select	NP_000511.2:p.Met459Ile
NM_001318825.2:c.1410G>A	NP_001305754.1:p.Met470Ile
NR_134869.2:n.1162G>A
NR_134869.3:n.1162G>A