Canonical Allele Identifier: CA393070516
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375855A>T , CM000677.2:g.72375855A>T GRCh38
NC_000015.9:g.72668196A>T , CM000677.1:g.72668196A>T GRCh37
NC_000015.8:g.70455250A>T NCBI36
NG_009017.1:g.5325T>A
NG_009017.2:g.5325T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.118T>A MANE Select ENSP00000268097.6:p.Tyr40Asn
ENST00000268097.9:c.118T>A ENSP00000268097.5:p.Tyr40Asn
ENST00000379915.4:c.118T>A ENSP00000478716.1:p.Tyr40Asn
ENST00000563762.5:n.118T>A ENSP00000456346.1:p.Tyr40Asn
ENST00000563908.1:n.115T>A
ENST00000566304.5:c.118T>A ENSP00000455114.1:p.Tyr40Asn
ENST00000566672.5:c.118T>A ENSP00000457037.1:p.Tyr40Asn
ENST00000567159.5:c.118T>A ENSP00000456489.1:p.Tyr40Asn
ENST00000567213.2:c.118T>A ENSP00000478217.1:p.Tyr40Asn
ENST00000567411.5:c.118T>A ENSP00000455545.1:p.Tyr40Asn
ENST00000568260.1:n.99T>A
ENST00000569410.5:c.118T>A ENSP00000457125.1:p.Tyr40Asn
ENST00000569509.5:n.147-24T>A
NM_000520.4:c.118T>A NP_000511.2:p.Tyr40Asn
NM_000520.5:c.118T>A NP_000511.2:p.Tyr40Asn
NM_001318825.1:c.118T>A NP_001305754.1:p.Tyr40Asn
NR_134869.1:n.619T>A
NM_000520.6:c.118T>A MANE Select NP_000511.2:p.Tyr40Asn
NM_001318825.2:c.118T>A NP_001305754.1:p.Tyr40Asn
NR_134869.2:n.160T>A
NR_134869.3:n.160T>A