Canonical Allele Identifier: CA2186761260
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375853G= , CM000677.2:g.72375853G= GRCh38
NC_000015.9:g.72668194G= , CM000677.1:g.72668194G= GRCh37
NC_000015.8:g.70455248G= NCBI36
NG_009017.1:g.5327C=
NG_009017.2:g.5327C=

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.120C= MANE Select ENSP00000268097.6:p.Tyr40=
ENST00000268097.9:c.120C= ENSP00000268097.5:p.Tyr40=
ENST00000379915.4:c.120C= ENSP00000478716.1:p.Tyr40=
ENST00000563762.5:n.120C= ENSP00000456346.1:p.Tyr40=
ENST00000563908.1:n.117C=
ENST00000566304.5:c.120C= ENSP00000455114.1:p.Tyr40=
ENST00000566672.5:c.120C= ENSP00000457037.1:p.Tyr40=
ENST00000567159.5:c.120C= ENSP00000456489.1:p.Tyr40=
ENST00000567213.2:c.120C= ENSP00000478217.1:p.Tyr40=
ENST00000567411.5:c.120C= ENSP00000455545.1:p.Tyr40=
ENST00000568260.1:n.101C=
ENST00000569410.5:c.120C= ENSP00000457125.1:p.Tyr40=
ENST00000569509.5:n.147-22C=
NM_000520.4:c.120C= NP_000511.2:p.Tyr40=
NM_000520.5:c.120C= NP_000511.2:p.Tyr40=
NM_001318825.1:c.120C= NP_001305754.1:p.Tyr40=
NR_134869.1:n.621C=
NM_000520.6:c.120C= MANE Select NP_000511.2:p.Tyr40=
NM_001318825.2:c.120C= NP_001305754.1:p.Tyr40=
NR_134869.2:n.162C=
NR_134869.3:n.162C=