Canonical Allele Identifier: CA358267713
Gene: NAA15 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.139360539T>C
GRCh37 chr4:g.140281693T>C
Revel Score:
ENST00000296543 (MANE Select) 0.650
ENST00000544077 0.650
ENST00000398947 0.650
ClinVar Allele:
1166550
ClinVar RCV:
RCV001532879
ClinVar Variation:
1177059
dbSNP:
2110956953
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139360539T>C , CM000666.2:g.139360539T>C GRCh38
NC_000004.11:g.140281693T>C , CM000666.1:g.140281693T>C GRCh37
NC_000004.10:g.140501143T>C NCBI36
NG_053037.1:g.64073T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000468029.2:c.*258T>C ENSP00000514912.1:n.*258T>C
ENST00000700275.1:c.1450T>C ENSP00000514910.1:p.Cys484Arg
ENST00000700276.1:c.*956T>C ENSP00000514911.1:n.*956T>C
ENST00000700277.1:c.1318T>C ENSP00000514913.1:p.Cys440Arg
ENST00000700278.1:n.1627T>C
ENST00000700279.1:n.1708T>C
ENST00000296543.10:c.1450T>C MANE Select ENSP00000296543.4:p.Cys484Arg
ENST00000296543.9:c.1450T>C ENSP00000296543.4:p.Cys484Arg
ENST00000398947.1:c.1450T>C ENSP00000381920.1:p.Cys484Arg
NM_057175.3:c.1450T>C NP_476516.1:p.Cys484Arg
XM_005263236.1:c.1450T>C XP_005263293.1:p.Cys484Arg
NM_057175.4:c.1450T>C NP_476516.1:p.Cys484Arg
XM_005263236.3:c.1450T>C XP_005263293.1:p.Cys484Arg
NM_057175.5:c.1450T>C MANE Select NP_476516.1:p.Cys484Arg
Search 100 bp 5'
Search 100 bp 3'