Canonical Allele Identifier: CA391622169

Gene: NOP10

Linked Data

• ClinVar Variation Id: 1018359
• ClinVar RCV Id: RCV001317644
• dbSNP Id: rs748193565
• gnomAD v2: 15-34634275-G-T
• gnomAD v4: 15-34342074-G-T
• MyVariant Identifiers: chr15:g.34634275G>T (hg19) ; chr15:g.34342074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34342074G>T , CM000677.2:g.34342074G>T	GRCh38
NC_000015.9:g.34634275G>T , CM000677.1:g.34634275G>T	GRCh37
NC_000015.8:g.32421567G>T	NCBI36
NG_007951.1:g.991C>A , LRG_270:g.991C>A
NG_011562.1:g.6088C>A , LRG_345:g.6088C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557912.2:c.55-24C>A	ENSP00000453475.1:n.55-24C>A
ENST00000699926.1:c.92C>A	ENSP00000514692.1:p.Ala31Asp
ENST00000699934.1:c.89C>A	ENSP00000514697.1:p.Ala30Asp
ENST00000699935.1:c.113C>A	ENSP00000514698.1:p.Ala38Asp
ENST00000699936.1:c.23C>A	ENSP00000514699.1:p.Ala8Asp
ENST00000699937.1:c.74C>A	ENSP00000514700.1:p.Ala25Asp
ENST00000699938.1:c.89C>A	ENSP00000514701.1:p.Ala30Asp
ENST00000699939.1:n.260-24C>A
ENST00000328848.6:c.89C>A MANE Select	ENSP00000332198.5:p.Ala30Asp
ENST00000328848.5:c.89C>A	ENSP00000332198.4:p.Ala30Asp
ENST00000557912.1:c.55-24C>A	ENSP00000453475.1:n.55-24C>A
NM_018648.3:c.89C>A , LRG_345t1:c.89C>A	NP_061118.1:p.Ala30Asp
NM_018648.4:c.89C>A MANE Select	NP_061118.1:p.Ala30Asp