Canonical Allele Identifier: CA9798400
Gene: NANP HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.25616533T>G
GRCh37 chr20:g.25597169T>G
Revel Score:
ENST00000304788 (MANE Select) 0.109
gnomAD v2:
20:25597169 T / G
gnomAD v3:
20:25616533 T / G
gnomAD v4:
chr20-25616533-T-G
Joint Max Group AF 0.00015181 (NFE)
Genomes Max Group AF 0.00006804 (NFE)
Exomes Max Group AF 0.00015343 (NFE)
ClinVar RCV:
RCV004203237
ClinVar Variation:
2360380
dbSNP:
200124748
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25616533T>G , CM000682.2:g.25616533T>G GRCh38
NC_000020.10:g.25597169T>G , CM000682.1:g.25597169T>G GRCh37
NC_000020.9:g.25545169T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000304788.4:c.139A>C MANE Select ENSP00000302441.3:p.Ile47Leu
ENST00000304788.3:c.139A>C ENSP00000302441.3:p.Ile47Leu
NM_152667.2:c.139A>C NP_689880.1:p.Ile47Leu
NM_152667.3:c.139A>C MANE Select NP_689880.1:p.Ile47Leu
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