Canonical Allele Identifier: CA127850
Gene: NAGA HGNC NCBI

Linked Data

ClinVar Variation Id: 18164
ClinVar RCV Id: RCV000019794
dbSNP Id: rs121434531

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42066730C>A , CM000684.2:g.42066730C>A GRCh38
NC_000022.10:g.42462734C>A , CM000684.1:g.42462734C>A GRCh37
NC_000022.9:g.40792680C>A NCBI36
NG_009247.1:g.9113G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396398.8:c.577G>T MANE Select ENSP00000379680.3:p.Glu193Ter
ENST00000396398.7:c.577G>T ENSP00000379680.3:p.Glu193Ter
ENST00000402937.1:c.577G>T ENSP00000384603.1:p.Glu193Ter
ENST00000403363.5:c.577G>T ENSP00000385283.1:p.Glu193Ter
NM_000262.2:c.577G>T NP_000253.1:p.Glu193Ter
XM_005261615.3:c.577G>T XP_005261672.1:p.Glu193Ter
XM_005261616.3:c.577G>T XP_005261673.1:p.Glu193Ter
NM_001362848.1:c.577G>T NP_001349777.1:p.Glu193Ter
NM_001362850.1:c.577G>T NP_001349779.1:p.Glu193Ter
NM_000262.3:c.577G>T MANE Select NP_000253.1:p.Glu193Ter