Canonical Allele Identifier: CA411768438

Gene: NAGA

Linked Data

• dbSNP Id: rs1926754190
• gnomAD v3: 22-42066717-G-T
• gnomAD v4: 22-42066717-G-T
• MyVariant Identifiers: chr22:g.42462721G>T (hg19) ; chr22:g.42066717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066717G>T , CM000684.2:g.42066717G>T	GRCh38
NC_000022.10:g.42462721G>T , CM000684.1:g.42462721G>T	GRCh37
NC_000022.9:g.40792667G>T	NCBI36
NG_009247.1:g.9126C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.590C>A MANE Select	ENSP00000379680.3:p.Pro197His
ENST00000396398.7:c.590C>A	ENSP00000379680.3:p.Pro197His
ENST00000402937.1:c.590C>A	ENSP00000384603.1:p.Pro197His
ENST00000403363.5:c.590C>A	ENSP00000385283.1:p.Pro197His
NM_000262.2:c.590C>A	NP_000253.1:p.Pro197His
XM_005261615.3:c.590C>A	XP_005261672.1:p.Pro197His
XM_005261616.3:c.590C>A	XP_005261673.1:p.Pro197His
NM_001362848.1:c.590C>A	NP_001349777.1:p.Pro197His
NM_001362850.1:c.590C>A	NP_001349779.1:p.Pro197His
NM_000262.3:c.590C>A MANE Select	NP_000253.1:p.Pro197His