Canonical Allele Identifier: CA10263771

Gene: NAGA

Linked Data

• ClinVar Variation Id: 2273293
• ClinVar RCV Id: RCV002822104
• dbSNP Id: rs750894817
• ExAC: 22:42462736 T / C
• gnomAD v2: 22-42462736-T-C
• gnomAD v3: 22-42066732-T-C
• gnomAD v4: 22-42066732-T-C
• MyVariant Identifiers: chr22:g.42462736T>C (hg19) ; chr22:g.42066732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066732T>C , CM000684.2:g.42066732T>C	GRCh38
NC_000022.10:g.42462736T>C , CM000684.1:g.42462736T>C	GRCh37
NC_000022.9:g.40792682T>C	NCBI36
NG_009247.1:g.9111A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396398.8:c.575A>G MANE Select	ENSP00000379680.3:p.Tyr192Cys
ENST00000396398.7:c.575A>G	ENSP00000379680.3:p.Tyr192Cys
ENST00000402937.1:c.575A>G	ENSP00000384603.1:p.Tyr192Cys
ENST00000403363.5:c.575A>G	ENSP00000385283.1:p.Tyr192Cys
NM_000262.2:c.575A>G	NP_000253.1:p.Tyr192Cys
XM_005261615.3:c.575A>G	XP_005261672.1:p.Tyr192Cys
XM_005261616.3:c.575A>G	XP_005261673.1:p.Tyr192Cys
NM_001362848.1:c.575A>G	NP_001349777.1:p.Tyr192Cys
NM_001362850.1:c.575A>G	NP_001349779.1:p.Tyr192Cys
NM_000262.3:c.575A>G MANE Select	NP_000253.1:p.Tyr192Cys