Canonical Allele Identifier: CA491111709

Gene: HEXA

Linked Data

• ClinVar Variation Id: 1534580
• ClinVar RCV Id: RCV002076824
• dbSNP Id: rs2140319660
• MyVariant Identifiers: chr15:g.72637876A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345535A>G , CM000677.2:g.72345535A>G	GRCh38
NC_000015.9:g.72637876A>G , CM000677.1:g.72637876A>G	GRCh37
NC_000015.8:g.70424930A>G	NCBI36
NG_009017.1:g.35645T>C
NG_009017.2:g.35645T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*97T>C	ENSP00000457521.2:n.*97T>C
ENST00000682061.1:c.*1783T>C	ENSP00000508316.1:n.*1783T>C
ENST00000682064.1:n.1664T>C
ENST00000682177.1:c.1480T>C	ENSP00000507409.1:n.1480T>C
ENST00000682235.1:n.1460T>C
ENST00000682461.1:c.1543T>C	ENSP00000507308.1:n.1543T>C
ENST00000682653.1:n.2441T>C
ENST00000682657.1:c.*1274T>C	ENSP00000507753.1:n.*1274T>C
ENST00000682721.1:c.*1240T>C	ENSP00000507535.1:n.*1240T>C
ENST00000682843.1:c.*1078T>C	ENSP00000508173.1:n.*1078T>C
ENST00000683003.1:c.*1274T>C	ENSP00000507576.1:n.*1274T>C
ENST00000683133.1:c.1621T>C	ENSP00000508108.1:n.1621T>C
ENST00000683243.1:c.*590T>C	ENSP00000507042.1:n.*590T>C
ENST00000683463.1:c.*926T>C	ENSP00000507986.1:n.*926T>C
ENST00000683548.1:n.1895T>C
ENST00000683579.1:c.*1335T>C	ENSP00000506867.1:n.*1335T>C
ENST00000683587.1:n.1968T>C
ENST00000683681.1:c.*115T>C	ENSP00000508110.1:n.*115T>C
ENST00000683735.1:c.*1835T>C	ENSP00000508336.1:n.*1835T>C
ENST00000683853.1:c.*242T>C	ENSP00000506834.1:n.*242T>C
ENST00000683860.1:c.*557T>C	ENSP00000507179.1:n.*557T>C
ENST00000683884.1:c.*764T>C	ENSP00000507004.1:n.*764T>C
ENST00000684041.1:c.*570T>C	ENSP00000508382.1:n.*570T>C
ENST00000684125.1:c.*97T>C	ENSP00000507320.1:n.*97T>C
ENST00000684203.1:n.3886T>C
ENST00000684231.1:c.*847T>C	ENSP00000507748.1:n.*847T>C
ENST00000684263.1:c.*1061T>C	ENSP00000508369.1:n.*1061T>C
ENST00000684305.1:c.1885T>C	ENSP00000506819.1:n.1885T>C
ENST00000684415.1:c.*988T>C	ENSP00000507227.1:n.*988T>C
ENST00000684520.1:c.*696T>C	ENSP00000506826.1:n.*696T>C
ENST00000684602.1:c.*1103T>C	ENSP00000507996.1:n.*1103T>C
ENST00000684667.1:c.1768T>C	ENSP00000507003.1:n.1768T>C
ENST00000268097.10:c.1437T>C MANE Select	ENSP00000268097.6:p.Ala479=
ENST00000268097.9:c.1437T>C	ENSP00000268097.5:p.Ala479=
ENST00000379915.4:c.519T>C	ENSP00000478716.1:p.Ala173=
ENST00000564677.5:n.229T>C
ENST00000565873.1:n.348T>C
ENST00000566304.5:c.1470T>C	ENSP00000455114.1:p.Ala490=
ENST00000567027.5:c.1052T>C
ENST00000567159.5:c.1437T>C	ENSP00000456489.1:p.Ala479=
ENST00000567411.5:c.*958T>C	ENSP00000455545.1:n.*958T>C
ENST00000568777.5:n.6657T>C
ENST00000569116.1:n.144T>C
NM_000520.4:c.1437T>C	NP_000511.2:p.Ala479=
NM_000520.5:c.1437T>C	NP_000511.2:p.Ala479=
NM_001318825.1:c.1470T>C	NP_001305754.1:p.Ala490=
NR_134869.1:n.1681T>C
NM_000520.6:c.1437T>C MANE Select	NP_000511.2:p.Ala479=
NM_001318825.2:c.1470T>C	NP_001305754.1:p.Ala490=
NR_134869.2:n.1222T>C
NR_134869.3:n.1222T>C