Canonical Allele Identifier: CA10263616
Gene: NAGA HGNC NCBI

Linked Data

ClinVar Variation Id: 2484673
ClinVar RCV Id: RCV003200272
dbSNP Id: rs766416828
ExAC: 22:42456983 T / A
gnomAD v2: 22-42456983-T-A
gnomAD v3: 22-42060979-T-A
gnomAD v4: 22-42060979-T-A
MyVariant Identifiers: chr22:g.42456983T>A (hg19) chr22:g.42060979T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42060979T>A , CM000684.2:g.42060979T>A GRCh38
NC_000022.10:g.42456983T>A , CM000684.1:g.42456983T>A GRCh37
NC_000022.9:g.40786929T>A NCBI36
NG_009247.1:g.14864A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396398.8:c.1046A>T MANE Select ENSP00000379680.3:p.Tyr349Phe
ENST00000396398.7:c.1046A>T ENSP00000379680.3:p.Tyr349Phe
ENST00000402937.1:c.1046A>T ENSP00000384603.1:p.Tyr349Phe
ENST00000403363.5:c.1046A>T ENSP00000385283.1:p.Tyr349Phe
NM_000262.2:c.1046A>T NP_000253.1:p.Tyr349Phe
XM_005261615.3:c.1046A>T XP_005261672.1:p.Tyr349Phe
XM_005261616.3:c.1046A>T XP_005261673.1:p.Tyr349Phe
NM_001362848.1:c.1046A>T NP_001349777.1:p.Tyr349Phe
NM_001362850.1:c.1046A>T NP_001349779.1:p.Tyr349Phe
NM_000262.3:c.1046A>T MANE Select NP_000253.1:p.Tyr349Phe
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