Canonical Allele Identifier: CA16041734
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 370596
ClinVar RCV Id: RCV000411081
dbSNP Id: rs1057516617

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346707G>A , CM000677.2:g.72346707G>A GRCh38
NC_000015.9:g.72639048G>A , CM000677.1:g.72639048G>A GRCh37
NC_000015.8:g.70426102G>A NCBI36
NG_009017.1:g.34473C>T
NG_009017.2:g.34473C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.1150C>T MANE Select ENSP00000268097.6:p.Gln384Ter
ENST00000268097.9:c.1150C>T ENSP00000268097.5:p.Gln384Ter
ENST00000379915.4:c.413-382C>T ENSP00000478716.1:p.=
ENST00000563762.5:n.826-382C>T ENSP00000456346.1:p.=
ENST00000566304.5:c.1183C>T ENSP00000455114.1:p.Gln395Ter
ENST00000566672.5:c.*560C>T ENSP00000457037.1:p.=
ENST00000567027.5:n.946-382C>T
ENST00000567159.5:c.1150C>T ENSP00000456489.1:p.Gln384Ter
ENST00000567411.5:c.*671C>T ENSP00000455545.1:p.=
ENST00000568777.5:n.6551-382C>T
ENST00000569410.5:c.1077C>T ENSP00000457125.1:p.Phe359=
NM_000520.4:c.1150C>T NP_000511.2:p.Gln384Ter
NM_000520.5:c.1150C>T NP_000511.2:p.Gln384Ter
NM_001318825.1:c.1183C>T NP_001305754.1:p.Gln395Ter
NR_134869.1:n.1575-382C>T
NM_000520.6:c.1150C>T MANE Select NP_000511.2:p.Gln384Ter
NM_001318825.2:c.1183C>T NP_001305754.1:p.Gln395Ter
NR_134869.2:n.1116-382C>T
NR_134869.3:n.1116-382C>T