Canonical Allele Identifier: CA10263690
Gene: NAGA HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.42063031G>T
GRCh37 chr22:g.42459035G>T
gnomAD v2:
22:42459035 G / T
gnomAD v3:
22:42063031 G / T
gnomAD v4:
chr22-42063031-G-T
Joint Max Group AF 0.01933441 (EAS)
Genomes Max Group AF 0.0206695 (EAS)
Exomes Max Group AF 0.01880041 (EAS)
ClinVar RCV:
RCV000308283
RCV000396104
ClinVar Variation:
341908
dbSNP:
150693978
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42063031G>T , CM000684.2:g.42063031G>T GRCh38
NC_000022.10:g.42459035G>T , CM000684.1:g.42459035G>T GRCh37
NC_000022.9:g.40788981G>T NCBI36
NG_009247.1:g.12812C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.760-7C>A MANE Select ENSP00000379680.3:n.760-7C>A
ENST00000396398.7:c.760-7C>A ENSP00000379680.3:n.760-7C>A
ENST00000402937.1:c.760-7C>A ENSP00000384603.1:n.760-7C>A
ENST00000403363.5:c.760-7C>A ENSP00000385283.1:n.760-7C>A
NM_000262.2:c.760-7C>A NP_000253.1:n.760-7C>A
XM_005261615.3:c.760-7C>A XP_005261672.1:n.760-7C>A
XM_005261616.3:c.760-7C>A XP_005261673.1:n.760-7C>A
NM_001362848.1:c.760-7C>A NP_001349777.1:n.760-7C>A
NM_001362850.1:c.760-7C>A NP_001349779.1:n.760-7C>A
NM_000262.3:c.760-7C>A MANE Select NP_000253.1:n.760-7C>A
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