Canonical Allele Identifier: CA10263721
Gene: NAGA HGNC NCBI
COSMIC:
COSM403791
MyVariant.info:
GRCh38 chr22:g.42065800C>T
GRCh37 chr22:g.42461804C>T
Revel Score:
ENST00000481068 0.091
ENST00000396398 (MANE Select) 0.436
ENST00000403363 0.436
ENST00000402937 0.436
gnomAD v2:
22:42461804 C / T
gnomAD v3:
22:42065800 C / T
gnomAD v4:
chr22-42065800-C-T
Joint Max Group AF 0.00020951 (NFE)
Genomes Max Group AF 0.00020672 (NFE)
Exomes Max Group AF 0.00020435 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42065800C>T , CM000684.2:g.42065800C>T GRCh38
NC_000022.10:g.42461804C>T , CM000684.1:g.42461804C>T GRCh37
NC_000022.9:g.40791750C>T NCBI36
NG_009247.1:g.10043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.697G>A MANE Select ENSP00000379680.3:p.Val233Met
ENST00000396398.7:c.697G>A ENSP00000379680.3:p.Val233Met
ENST00000402937.1:c.697G>A ENSP00000384603.1:p.Val233Met
ENST00000403363.5:c.697G>A ENSP00000385283.1:p.Val233Met
NM_000262.2:c.697G>A NP_000253.1:p.Val233Met
XM_005261615.3:c.697G>A XP_005261672.1:p.Val233Met
XM_005261616.3:c.697G>A XP_005261673.1:p.Val233Met
NM_001362848.1:c.697G>A NP_001349777.1:p.Val233Met
NM_001362850.1:c.697G>A NP_001349779.1:p.Val233Met
NM_000262.3:c.697G>A MANE Select NP_000253.1:p.Val233Met
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