Canonical Allele Identifier: CA514677693

Gene: NAGA

Linked Data

• ClinVar Variation Id: 3000648
• ClinVar RCV Id: RCV003859807
• dbSNP Id: rs949245422
• gnomAD v3: 22-42066722-G-A
• gnomAD v4: 22-42066722-G-A
• MyVariant Identifiers: chr22:g.42462726G>A (hg19) ; chr22:g.42066722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066722G>A , CM000684.2:g.42066722G>A	GRCh38
NC_000022.10:g.42462726G>A , CM000684.1:g.42462726G>A	GRCh37
NC_000022.9:g.40792672G>A	NCBI36
NG_009247.1:g.9121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.585C>T MANE Select	ENSP00000379680.3:p.Gly195=
ENST00000396398.7:c.585C>T	ENSP00000379680.3:p.Gly195=
ENST00000402937.1:c.585C>T	ENSP00000384603.1:p.Gly195=
ENST00000403363.5:c.585C>T	ENSP00000385283.1:p.Gly195=
NM_000262.2:c.585C>T	NP_000253.1:p.Gly195=
XM_005261615.3:c.585C>T	XP_005261672.1:p.Gly195=
XM_005261616.3:c.585C>T	XP_005261673.1:p.Gly195=
NM_001362848.1:c.585C>T	NP_001349777.1:p.Gly195=
NM_001362850.1:c.585C>T	NP_001349779.1:p.Gly195=
NM_000262.3:c.585C>T MANE Select	NP_000253.1:p.Gly195=