Canonical Allele Identifier: CA7137148
Gene: NYNRIN HGNC NCBI
COSMIC:
COSM4148061 (not active)
MyVariant.info:
GRCh38 chr14:g.24414681G>A
GRCh37 chr14:g.24883887G>A
Revel Score:
ENST00000382554 (MANE Select) 0.007
gnomAD v2:
14:24883887 G / A
gnomAD v3:
14:24414681 G / A
gnomAD v4:
chr14-24414681-G-A
Joint Max Group AF 0.47253775 (NFE)
Genomes Max Group AF 0.46417344 (NFE)
Exomes Max Group AF 0.4728173 (NFE)
ClinVar RCV:
RCV003667422
ClinVar Variation:
2792733
dbSNP:
8017377
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24414681G>A , CM000676.2:g.24414681G>A GRCh38
NC_000014.8:g.24883887G>A , CM000676.1:g.24883887G>A GRCh37
NC_000014.7:g.23953727G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382554.4:c.2932G>A MANE Select ENSP00000371994.3:p.Ala978Thr
ENST00000382554.3:c.2932G>A ENSP00000371994.3:p.Ala978Thr
ENST00000554505.1:n.388G>A
NM_025081.2:c.2932G>A NP_079357.2:p.Ala978Thr
XM_011537016.1:c.292G>A XP_011535318.1:p.Ala98Thr
XM_011537016.2:c.292G>A XP_011535318.1:p.Ala98Thr
NM_025081.3:c.2932G>A MANE Select NP_079357.2:p.Ala978Thr
Search 100 bp 5'
Search 100 bp 3'