Canonical Allele Identifier: CA10263776
Gene: NAGA HGNC NCBI

Linked Data

ClinVar Variation Id: 1480053
ClinVar RCV Id: RCV001991166
dbSNP Id: rs777425990
ExAC: 22:42462769 C / T
gnomAD v2: 22-42462769-C-T
gnomAD v3: 22-42066765-C-T
gnomAD v4: 22-42066765-C-T
COSMIC: COSM4104537
MyVariant Identifiers: chr22:g.42462769C>T (hg19) chr22:g.42066765C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42066765C>T , CM000684.2:g.42066765C>T GRCh38
NC_000022.10:g.42462769C>T , CM000684.1:g.42462769C>T GRCh37
NC_000022.9:g.40792715C>T NCBI36
NG_009247.1:g.9078G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.542G>A MANE Select ENSP00000379680.3:p.Arg181His
ENST00000396398.7:c.542G>A ENSP00000379680.3:p.Arg181His
ENST00000402937.1:c.542G>A ENSP00000384603.1:p.Arg181His
ENST00000403363.5:c.542G>A ENSP00000385283.1:p.Arg181His
NM_000262.2:c.542G>A NP_000253.1:p.Arg181His
XM_005261615.3:c.542G>A XP_005261672.1:p.Arg181His
XM_005261616.3:c.542G>A XP_005261673.1:p.Arg181His
NM_001362848.1:c.542G>A NP_001349777.1:p.Arg181His
NM_001362850.1:c.542G>A NP_001349779.1:p.Arg181His
NM_000262.3:c.542G>A MANE Select NP_000253.1:p.Arg181His
Search 100 bp 5'
Search 100 bp 3'