Canonical Allele Identifier: CA10263627
Gene: NAGA HGNC NCBI

Linked Data

ClinVar Variation Id: 596276
ClinVar RCV Id: RCV000732043 RCV001305248 RCV003243282
dbSNP Id: rs140356002
ExAC: 22:42457046 A / G
gnomAD v2: 22-42457046-A-G
gnomAD v3: 22-42061042-A-G
gnomAD v4: 22-42061042-A-G
MyVariant Identifiers: chr22:g.42457046A>G (hg19) chr22:g.42061042A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42061042A>G , CM000684.2:g.42061042A>G GRCh38
NC_000022.10:g.42457046A>G , CM000684.1:g.42457046A>G GRCh37
NC_000022.9:g.40786992A>G NCBI36
NG_009247.1:g.14801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.983T>C MANE Select ENSP00000379680.3:p.Met328Thr
ENST00000396398.7:c.983T>C ENSP00000379680.3:p.Met328Thr
ENST00000402937.1:c.983T>C ENSP00000384603.1:p.Met328Thr
ENST00000403363.5:c.983T>C ENSP00000385283.1:p.Met328Thr
NM_000262.2:c.983T>C NP_000253.1:p.Met328Thr
XM_005261615.3:c.983T>C XP_005261672.1:p.Met328Thr
XM_005261616.3:c.983T>C XP_005261673.1:p.Met328Thr
NM_001362848.1:c.983T>C NP_001349777.1:p.Met328Thr
NM_001362850.1:c.983T>C NP_001349779.1:p.Met328Thr
NM_000262.3:c.983T>C MANE Select NP_000253.1:p.Met328Thr
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