Canonical Allele Identifier: CA411766059

Gene: NAGA

Linked Data

• ClinVar Variation Id: 2434025
• ClinVar RCV Id: RCV003132824
• dbSNP Id: rs147253075
• gnomAD v4: 22-42060941-C-T
• MyVariant Identifiers: chr22:g.42456945C>T (hg19) ; chr22:g.42060941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42060941C>T , CM000684.2:g.42060941C>T	GRCh38
NC_000022.10:g.42456945C>T , CM000684.1:g.42456945C>T	GRCh37
NC_000022.9:g.40786891C>T	NCBI36
NG_009247.1:g.14902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.1084G>A MANE Select	ENSP00000379680.3:p.Gly362Arg
ENST00000396398.7:c.1084G>A	ENSP00000379680.3:p.Gly362Arg
ENST00000402937.1:c.1084G>A	ENSP00000384603.1:p.Gly362Arg
ENST00000403363.5:c.1084G>A	ENSP00000385283.1:p.Gly362Arg
NM_000262.2:c.1084G>A	NP_000253.1:p.Gly362Arg
XM_005261615.3:c.1084G>A	XP_005261672.1:p.Gly362Arg
XM_005261616.3:c.1084G>A	XP_005261673.1:p.Gly362Arg
NM_001362848.1:c.1084G>A	NP_001349777.1:p.Gly362Arg
NM_001362850.1:c.1084G>A	NP_001349779.1:p.Gly362Arg
NM_000262.3:c.1084G>A MANE Select	NP_000253.1:p.Gly362Arg