Canonical Allele Identifier: CA411766330

Gene: NAGA

Linked Data

• dbSNP Id: rs1177178341
• gnomAD v4: 22-42061025-T-G
• MyVariant Identifiers: chr22:g.42457029T>G (hg19) ; chr22:g.42061025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42061025T>G , CM000684.2:g.42061025T>G	GRCh38
NC_000022.10:g.42457029T>G , CM000684.1:g.42457029T>G	GRCh37
NC_000022.9:g.40786975T>G	NCBI36
NG_009247.1:g.14818A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.1000A>C MANE Select	ENSP00000379680.3:p.Lys334Gln
ENST00000396398.7:c.1000A>C	ENSP00000379680.3:p.Lys334Gln
ENST00000402937.1:c.1000A>C	ENSP00000384603.1:p.Lys334Gln
ENST00000403363.5:c.1000A>C	ENSP00000385283.1:p.Lys334Gln
NM_000262.2:c.1000A>C	NP_000253.1:p.Lys334Gln
XM_005261615.3:c.1000A>C	XP_005261672.1:p.Lys334Gln
XM_005261616.3:c.1000A>C	XP_005261673.1:p.Lys334Gln
NM_001362848.1:c.1000A>C	NP_001349777.1:p.Lys334Gln
NM_001362850.1:c.1000A>C	NP_001349779.1:p.Lys334Gln
NM_000262.3:c.1000A>C MANE Select	NP_000253.1:p.Lys334Gln