Canonical Allele Identifier: CA393070521
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375858G>A , CM000677.2:g.72375858G>A GRCh38
NC_000015.9:g.72668199G>A , CM000677.1:g.72668199G>A GRCh37
NC_000015.8:g.70455253G>A NCBI36
NG_009017.1:g.5322C>T
NG_009017.2:g.5322C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.115C>T MANE Select ENSP00000268097.6:p.Leu39Phe
ENST00000268097.9:c.115C>T ENSP00000268097.5:p.Leu39Phe
ENST00000379915.4:c.115C>T ENSP00000478716.1:p.Leu39Phe
ENST00000563762.5:n.115C>T ENSP00000456346.1:p.Leu39Phe
ENST00000563908.1:n.112C>T
ENST00000566304.5:c.115C>T ENSP00000455114.1:p.Leu39Phe
ENST00000566672.5:c.115C>T ENSP00000457037.1:p.Leu39Phe
ENST00000567159.5:c.115C>T ENSP00000456489.1:p.Leu39Phe
ENST00000567213.2:c.115C>T ENSP00000478217.1:p.Leu39Phe
ENST00000567411.5:c.115C>T ENSP00000455545.1:p.Leu39Phe
ENST00000568260.1:n.96C>T
ENST00000569410.5:c.115C>T ENSP00000457125.1:p.Leu39Phe
ENST00000569509.5:n.147-27C>T
NM_000520.4:c.115C>T NP_000511.2:p.Leu39Phe
NM_000520.5:c.115C>T NP_000511.2:p.Leu39Phe
NM_001318825.1:c.115C>T NP_001305754.1:p.Leu39Phe
NR_134869.1:n.616C>T
NM_000520.6:c.115C>T MANE Select NP_000511.2:p.Leu39Phe
NM_001318825.2:c.115C>T NP_001305754.1:p.Leu39Phe
NR_134869.2:n.157C>T
NR_134869.3:n.157C>T