Canonical Allele Identifier: CA514676482
Gene: NAGA HGNC NCBI

Linked Data

ClinVar Variation Id: 3001704
ClinVar RCV Id: RCV003862767
MyVariant Identifiers: chr22:g.42456946G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42060942G>T , CM000684.2:g.42060942G>T GRCh38
NC_000022.10:g.42456946G>T , CM000684.1:g.42456946G>T GRCh37
NC_000022.9:g.40786892G>T NCBI36
NG_009247.1:g.14901C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.1083C>A MANE Select ENSP00000379680.3:p.Thr361=
ENST00000396398.7:c.1083C>A ENSP00000379680.3:p.Thr361=
ENST00000402937.1:c.1083C>A ENSP00000384603.1:p.Thr361=
ENST00000403363.5:c.1083C>A ENSP00000385283.1:p.Thr361=
NM_000262.2:c.1083C>A NP_000253.1:p.Thr361=
XM_005261615.3:c.1083C>A XP_005261672.1:p.Thr361=
XM_005261616.3:c.1083C>A XP_005261673.1:p.Thr361=
NM_001362848.1:c.1083C>A NP_001349777.1:p.Thr361=
NM_001362850.1:c.1083C>A NP_001349779.1:p.Thr361=
NM_000262.3:c.1083C>A MANE Select NP_000253.1:p.Thr361=