Canonical Allele Identifier: CA10263889

Gene: NAGA

Linked Data

• ClinVar Variation Id: 341912
• ClinVar RCV Id: RCV000319000 ; RCV000375961 ; RCV000764402 ; RCV000520922 ; RCV004530382
• dbSNP Id: rs73167107
• ExAC: 22:42463813 C / T
• gnomAD v2: 22-42463813-C-T
• gnomAD v3: 22-42067809-C-T
• gnomAD v4: 22-42067809-C-T
• COSMIC: COSM726963
• MyVariant Identifiers: chr22:g.42463813C>T (hg19) ; chr22:g.42067809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42067809C>T , CM000684.2:g.42067809C>T	GRCh38
NC_000022.10:g.42463813C>T , CM000684.1:g.42463813C>T	GRCh37
NC_000022.9:g.40793759C>T	NCBI36
NG_009247.1:g.8034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.280G>A MANE Select	ENSP00000379680.3:p.Asp94Asn
ENST00000396398.7:c.280G>A	ENSP00000379680.3:p.Asp94Asn
ENST00000402937.1:c.280G>A	ENSP00000384603.1:p.Asp94Asn
ENST00000403363.5:c.280G>A	ENSP00000385283.1:p.Asp94Asn
NM_000262.2:c.280G>A	NP_000253.1:p.Asp94Asn
XM_005261615.3:c.280G>A	XP_005261672.1:p.Asp94Asn
XM_005261616.3:c.280G>A	XP_005261673.1:p.Asp94Asn
NM_001362848.1:c.280G>A	NP_001349777.1:p.Asp94Asn
NM_001362850.1:c.280G>A	NP_001349779.1:p.Asp94Asn
NM_000262.3:c.280G>A MANE Select	NP_000253.1:p.Asp94Asn