Canonical Allele Identifier: CA491115554

Gene: HEXA

Linked Data

• gnomAD v4: 15-72346315-C-T
• MyVariant Identifiers: chr15:g.72638656C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346315C>T , CM000677.2:g.72346315C>T	GRCh38
NC_000015.9:g.72638656C>T , CM000677.1:g.72638656C>T	GRCh37
NC_000015.8:g.70425710C>T	NCBI36
NG_009017.1:g.34865G>A
NG_009017.2:g.34865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*1G>A	ENSP00000457521.2:n.*1G>A
ENST00000682061.1:c.*1003G>A	ENSP00000508316.1:n.*1003G>A
ENST00000682064.1:n.884G>A
ENST00000682177.1:c.1384G>A	ENSP00000507409.1:n.1384G>A
ENST00000682235.1:n.680G>A
ENST00000682461.1:c.1447G>A	ENSP00000507308.1:n.1447G>A
ENST00000682653.1:n.1661G>A
ENST00000682657.1:c.*494G>A	ENSP00000507753.1:n.*494G>A
ENST00000682721.1:c.*1144G>A	ENSP00000507535.1:n.*1144G>A
ENST00000682843.1:c.*982G>A	ENSP00000508173.1:n.*982G>A
ENST00000683003.1:c.*494G>A	ENSP00000507576.1:n.*494G>A
ENST00000683133.1:c.1525G>A	ENSP00000508108.1:n.1525G>A
ENST00000683243.1:c.*494G>A	ENSP00000507042.1:n.*494G>A
ENST00000683463.1:c.*146G>A	ENSP00000507986.1:n.*146G>A
ENST00000683548.1:n.1115G>A
ENST00000683579.1:c.*1239G>A	ENSP00000506867.1:n.*1239G>A
ENST00000683587.1:n.1188G>A
ENST00000683681.1:c.1341G>A	ENSP00000508110.1:p.Glu447=
ENST00000683735.1:c.*1055G>A	ENSP00000508336.1:n.*1055G>A
ENST00000683853.1:c.*146G>A	ENSP00000506834.1:n.*146G>A
ENST00000683860.1:c.1341G>A	ENSP00000507179.1:p.Glu447=
ENST00000683884.1:c.1157G>A	ENSP00000507004.1:p.Ser386Asn
ENST00000684041.1:c.1341G>A	ENSP00000508382.1:p.Glu447=
ENST00000684125.1:c.*1G>A	ENSP00000507320.1:n.*1G>A
ENST00000684203.1:n.3106G>A
ENST00000684231.1:c.*751G>A	ENSP00000507748.1:n.*751G>A
ENST00000684263.1:c.*281G>A	ENSP00000508369.1:n.*281G>A
ENST00000684305.1:c.1789G>A	ENSP00000506819.1:n.1789G>A
ENST00000684415.1:c.*208G>A	ENSP00000507227.1:n.*208G>A
ENST00000684520.1:c.1341G>A	ENSP00000506826.1:p.Glu447=
ENST00000684602.1:c.*1007G>A	ENSP00000507996.1:n.*1007G>A
ENST00000684667.1:c.1672G>A	ENSP00000507003.1:n.1672G>A
ENST00000268097.10:c.1341G>A MANE Select	ENSP00000268097.6:p.Glu447=
ENST00000268097.9:c.1341G>A	ENSP00000268097.5:p.Glu447=
ENST00000379915.4:c.423G>A	ENSP00000478716.1:p.Glu141=
ENST00000563762.5:c.836G>A	ENSP00000456346.1:n.836G>A
ENST00000566304.5:c.1374G>A	ENSP00000455114.1:p.Glu458=
ENST00000566672.5:c.*751G>A	ENSP00000457037.1:n.*751G>A
ENST00000567027.5:c.956G>A
ENST00000567159.5:c.1341G>A	ENSP00000456489.1:p.Glu447=
ENST00000567411.5:c.*862G>A	ENSP00000455545.1:n.*862G>A
ENST00000568777.5:n.6561G>A
ENST00000569410.5:c.*146G>A	ENSP00000457125.1:n.*146G>A
NM_000520.4:c.1341G>A	NP_000511.2:p.Glu447=
NM_000520.5:c.1341G>A	NP_000511.2:p.Glu447=
NM_001318825.1:c.1374G>A	NP_001305754.1:p.Glu458=
NR_134869.1:n.1585G>A
NM_000520.6:c.1341G>A MANE Select	NP_000511.2:p.Glu447=
NM_001318825.2:c.1374G>A	NP_001305754.1:p.Glu458=
NR_134869.2:n.1126G>A
NR_134869.3:n.1126G>A