Canonical Allele Identifier: CA10263769
Gene: NAGA HGNC NCBI

Linked Data

ClinVar Variation Id: 2535082
ClinVar RCV Id: RCV003260775
dbSNP Id: rs757312156
ExAC: 22:42462728 C / T
gnomAD v2: 22-42462728-C-T
gnomAD v4: 22-42066724-C-T
MyVariant Identifiers: chr22:g.42462728C>T (hg19) chr22:g.42066724C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42066724C>T , CM000684.2:g.42066724C>T GRCh38
NC_000022.10:g.42462728C>T , CM000684.1:g.42462728C>T GRCh37
NC_000022.9:g.40792674C>T NCBI36
NG_009247.1:g.9119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.583G>A MANE Select ENSP00000379680.3:p.Gly195Ser
ENST00000396398.7:c.583G>A ENSP00000379680.3:p.Gly195Ser
ENST00000402937.1:c.583G>A ENSP00000384603.1:p.Gly195Ser
ENST00000403363.5:c.583G>A ENSP00000385283.1:p.Gly195Ser
NM_000262.2:c.583G>A NP_000253.1:p.Gly195Ser
XM_005261615.3:c.583G>A XP_005261672.1:p.Gly195Ser
XM_005261616.3:c.583G>A XP_005261673.1:p.Gly195Ser
NM_001362848.1:c.583G>A NP_001349777.1:p.Gly195Ser
NM_001362850.1:c.583G>A NP_001349779.1:p.Gly195Ser
NM_000262.3:c.583G>A MANE Select NP_000253.1:p.Gly195Ser
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