Canonical Allele Identifier: CA393060843
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346610A>C , CM000677.2:g.72346610A>C GRCh38
NC_000015.9:g.72638951A>C , CM000677.1:g.72638951A>C GRCh37
NC_000015.8:g.70426005A>C NCBI36
NG_009017.1:g.34570T>G
NG_009017.2:g.34570T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.1247T>G MANE Select ENSP00000268097.6:p.Leu416Arg
ENST00000268097.9:c.1247T>G ENSP00000268097.5:p.Leu416Arg
ENST00000379915.4:c.413-285T>G ENSP00000478716.1:p.=
ENST00000563762.5:n.826-285T>G ENSP00000456346.1:p.=
ENST00000566304.5:c.1280T>G ENSP00000455114.1:p.Leu427Arg
ENST00000566672.5:c.*657T>G ENSP00000457037.1:p.=
ENST00000567027.5:n.946-285T>G
ENST00000567159.5:c.1247T>G ENSP00000456489.1:p.Leu416Arg
ENST00000567411.5:c.*768T>G ENSP00000455545.1:p.=
ENST00000568777.5:n.6551-285T>G
ENST00000569410.5:c.*52T>G ENSP00000457125.1:p.=
NM_000520.4:c.1247T>G NP_000511.2:p.Leu416Arg
NM_000520.5:c.1247T>G NP_000511.2:p.Leu416Arg
NM_001318825.1:c.1280T>G NP_001305754.1:p.Leu427Arg
NR_134869.1:n.1575-285T>G
NM_000520.6:c.1247T>G MANE Select NP_000511.2:p.Leu416Arg
NM_001318825.2:c.1280T>G NP_001305754.1:p.Leu427Arg
NR_134869.2:n.1116-285T>G
NR_134869.3:n.1116-285T>G