Canonical Allele Identifier: CA393058831

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637866T>A (hg19) ; chr15:g.72345525T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345525T>A , CM000677.2:g.72345525T>A	GRCh38
NC_000015.9:g.72637866T>A , CM000677.1:g.72637866T>A	GRCh37
NC_000015.8:g.70424920T>A	NCBI36
NG_009017.1:g.35655A>T
NG_009017.2:g.35655A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*107A>T	ENSP00000457521.2:n.*107A>T
ENST00000682061.1:c.*1793A>T	ENSP00000508316.1:n.*1793A>T
ENST00000682064.1:n.1674A>T
ENST00000682177.1:c.1490A>T	ENSP00000507409.1:n.1490A>T
ENST00000682235.1:n.1470A>T
ENST00000682461.1:c.1553A>T	ENSP00000507308.1:n.1553A>T
ENST00000682653.1:n.2451A>T
ENST00000682657.1:c.*1284A>T	ENSP00000507753.1:n.*1284A>T
ENST00000682721.1:c.*1250A>T	ENSP00000507535.1:n.*1250A>T
ENST00000682843.1:c.*1088A>T	ENSP00000508173.1:n.*1088A>T
ENST00000683003.1:c.*1284A>T	ENSP00000507576.1:n.*1284A>T
ENST00000683133.1:c.1631A>T	ENSP00000508108.1:n.1631A>T
ENST00000683243.1:c.*600A>T	ENSP00000507042.1:n.*600A>T
ENST00000683463.1:c.*936A>T	ENSP00000507986.1:n.*936A>T
ENST00000683548.1:n.1905A>T
ENST00000683579.1:c.*1345A>T	ENSP00000506867.1:n.*1345A>T
ENST00000683587.1:n.1978A>T
ENST00000683681.1:c.*125A>T	ENSP00000508110.1:n.*125A>T
ENST00000683735.1:c.*1845A>T	ENSP00000508336.1:n.*1845A>T
ENST00000683853.1:c.*252A>T	ENSP00000506834.1:n.*252A>T
ENST00000683860.1:c.*567A>T	ENSP00000507179.1:n.*567A>T
ENST00000683884.1:c.*774A>T	ENSP00000507004.1:n.*774A>T
ENST00000684041.1:c.*580A>T	ENSP00000508382.1:n.*580A>T
ENST00000684125.1:c.*107A>T	ENSP00000507320.1:n.*107A>T
ENST00000684203.1:n.3896A>T
ENST00000684231.1:c.*857A>T	ENSP00000507748.1:n.*857A>T
ENST00000684263.1:c.*1071A>T	ENSP00000508369.1:n.*1071A>T
ENST00000684305.1:c.1895A>T	ENSP00000506819.1:n.1895A>T
ENST00000684415.1:c.*998A>T	ENSP00000507227.1:n.*998A>T
ENST00000684520.1:c.*706A>T	ENSP00000506826.1:n.*706A>T
ENST00000684602.1:c.*1113A>T	ENSP00000507996.1:n.*1113A>T
ENST00000684667.1:c.1778A>T	ENSP00000507003.1:n.1778A>T
ENST00000268097.10:c.1447A>T MANE Select	ENSP00000268097.6:p.Arg483Trp
ENST00000268097.9:c.1447A>T	ENSP00000268097.5:p.Arg483Trp
ENST00000379915.4:c.529A>T	ENSP00000478716.1:p.Arg177Trp
ENST00000564677.5:n.239A>T
ENST00000565873.1:n.358A>T
ENST00000566304.5:c.1480A>T	ENSP00000455114.1:p.Arg494Trp
ENST00000567027.5:c.1062A>T
ENST00000567159.5:c.1447A>T	ENSP00000456489.1:p.Arg483Trp
ENST00000567411.5:c.*968A>T	ENSP00000455545.1:n.*968A>T
ENST00000568777.5:n.6667A>T
ENST00000569116.1:n.154A>T
NM_000520.4:c.1447A>T	NP_000511.2:p.Arg483Trp
NM_000520.5:c.1447A>T	NP_000511.2:p.Arg483Trp
NM_001318825.1:c.1480A>T	NP_001305754.1:p.Arg494Trp
NR_134869.1:n.1691A>T
NM_000520.6:c.1447A>T MANE Select	NP_000511.2:p.Arg483Trp
NM_001318825.2:c.1480A>T	NP_001305754.1:p.Arg494Trp
NR_134869.2:n.1232A>T
NR_134869.3:n.1232A>T