Canonical Allele Identifier: CA2186761253
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375852G= , CM000677.2:g.72375852G= GRCh38
NC_000015.9:g.72668193G= , CM000677.1:g.72668193G= GRCh37
NC_000015.8:g.70455247G= NCBI36
NG_009017.1:g.5328C=
NG_009017.2:g.5328C=

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.121C= MANE Select ENSP00000268097.6:p.Pro41=
ENST00000268097.9:c.121C= ENSP00000268097.5:p.Pro41=
ENST00000379915.4:c.121C= ENSP00000478716.1:p.Pro41=
ENST00000563762.5:n.121C= ENSP00000456346.1:p.Pro41=
ENST00000563908.1:n.118C=
ENST00000566304.5:c.121C= ENSP00000455114.1:p.Pro41=
ENST00000566672.5:c.121C= ENSP00000457037.1:p.Pro41=
ENST00000567159.5:c.121C= ENSP00000456489.1:p.Pro41=
ENST00000567213.2:c.121C= ENSP00000478217.1:p.Pro41=
ENST00000567411.5:c.121C= ENSP00000455545.1:p.Pro41=
ENST00000568260.1:n.102C=
ENST00000569410.5:c.121C= ENSP00000457125.1:p.Pro41=
ENST00000569509.5:n.147-21C=
NM_000520.4:c.121C= NP_000511.2:p.Pro41=
NM_000520.5:c.121C= NP_000511.2:p.Pro41=
NM_001318825.1:c.121C= NP_001305754.1:p.Pro41=
NR_134869.1:n.622C=
NM_000520.6:c.121C= MANE Select NP_000511.2:p.Pro41=
NM_001318825.2:c.121C= NP_001305754.1:p.Pro41=
NR_134869.2:n.163C=
NR_134869.3:n.163C=