Canonical Allele Identifier: CA10263618

Gene: NAGA

Linked Data

• dbSNP Id: rs140711222
• ExAC: 22:42456989 A / G
• gnomAD v2: 22-42456989-A-G
• gnomAD v3: 22-42060985-A-G
• gnomAD v4: 22-42060985-A-G
• MyVariant Identifiers: chr22:g.42456989A>G (hg19) ; chr22:g.42060985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42060985A>G , CM000684.2:g.42060985A>G	GRCh38
NC_000022.10:g.42456989A>G , CM000684.1:g.42456989A>G	GRCh37
NC_000022.9:g.40786935A>G	NCBI36
NG_009247.1:g.14858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.1040T>C MANE Select	ENSP00000379680.3:p.Met347Thr
ENST00000396398.7:c.1040T>C	ENSP00000379680.3:p.Met347Thr
ENST00000402937.1:c.1040T>C	ENSP00000384603.1:p.Met347Thr
ENST00000403363.5:c.1040T>C	ENSP00000385283.1:p.Met347Thr
NM_000262.2:c.1040T>C	NP_000253.1:p.Met347Thr
XM_005261615.3:c.1040T>C	XP_005261672.1:p.Met347Thr
XM_005261616.3:c.1040T>C	XP_005261673.1:p.Met347Thr
NM_001362848.1:c.1040T>C	NP_001349777.1:p.Met347Thr
NM_001362850.1:c.1040T>C	NP_001349779.1:p.Met347Thr
NM_000262.3:c.1040T>C MANE Select	NP_000253.1:p.Met347Thr