Canonical Allele Identifier: CA10263822

Gene: NAGA

Linked Data

• ClinVar Variation Id: 2162574
• ClinVar RCV Id: RCV003070311
• dbSNP Id: rs376622171
• ExAC: 22:42463181 G / A
• gnomAD v2: 22-42463181-G-A
• gnomAD v3: 22-42067177-G-A
• gnomAD v4: 22-42067177-G-A
• MyVariant Identifiers: chr22:g.42463181G>A (hg19) ; chr22:g.42067177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42067177G>A , CM000684.2:g.42067177G>A	GRCh38
NC_000022.10:g.42463181G>A , CM000684.1:g.42463181G>A	GRCh37
NC_000022.9:g.40793127G>A	NCBI36
NG_009247.1:g.8666C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.438C>T MANE Select	ENSP00000379680.3:p.Ala146=
ENST00000396398.7:c.438C>T	ENSP00000379680.3:p.Ala146=
ENST00000402937.1:c.438C>T	ENSP00000384603.1:p.Ala146=
ENST00000403363.5:c.438C>T	ENSP00000385283.1:p.Ala146=
NM_000262.2:c.438C>T	NP_000253.1:p.Ala146=
XM_005261615.3:c.438C>T	XP_005261672.1:p.Ala146=
XM_005261616.3:c.438C>T	XP_005261673.1:p.Ala146=
NM_001362848.1:c.438C>T	NP_001349777.1:p.Ala146=
NM_001362850.1:c.438C>T	NP_001349779.1:p.Ala146=
NM_000262.3:c.438C>T MANE Select	NP_000253.1:p.Ala146=