Canonical Allele Identifier: CA411768443

Gene: NAGA

Linked Data

• dbSNP Id: rs1926754559
• gnomAD v4: 22-42066720-A-G
• MyVariant Identifiers: chr22:g.42462724A>G (hg19) ; chr22:g.42066720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066720A>G , CM000684.2:g.42066720A>G	GRCh38
NC_000022.10:g.42462724A>G , CM000684.1:g.42462724A>G	GRCh37
NC_000022.9:g.40792670A>G	NCBI36
NG_009247.1:g.9123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.587T>C MANE Select	ENSP00000379680.3:p.Leu196Pro
ENST00000396398.7:c.587T>C	ENSP00000379680.3:p.Leu196Pro
ENST00000402937.1:c.587T>C	ENSP00000384603.1:p.Leu196Pro
ENST00000403363.5:c.587T>C	ENSP00000385283.1:p.Leu196Pro
NM_000262.2:c.587T>C	NP_000253.1:p.Leu196Pro
XM_005261615.3:c.587T>C	XP_005261672.1:p.Leu196Pro
XM_005261616.3:c.587T>C	XP_005261673.1:p.Leu196Pro
NM_001362848.1:c.587T>C	NP_001349777.1:p.Leu196Pro
NM_001362850.1:c.587T>C	NP_001349779.1:p.Leu196Pro
NM_000262.3:c.587T>C MANE Select	NP_000253.1:p.Leu196Pro