Canonical Allele Identifier: CA391621938

Gene: NOP10

Linked Data

• ClinVar Variation Id: 1947972
• ClinVar RCV Id: RCV002663720
• dbSNP Id: rs1287418136
• gnomAD v2: 15-34634183-G-A
• gnomAD v3: 15-34341982-G-A
• gnomAD v4: 15-34341982-G-A
• MyVariant Identifiers: chr15:g.34634183G>A (hg19) ; chr15:g.34341982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34341982G>A , CM000677.2:g.34341982G>A	GRCh38
NC_000015.9:g.34634183G>A , CM000677.1:g.34634183G>A	GRCh37
NC_000015.8:g.32421475G>A	NCBI36
NG_007951.1:g.1083C>T , LRG_270:g.1083C>T
NG_011562.1:g.6180C>T , LRG_345:g.6180C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557912.2:c.*12C>T	ENSP00000453475.1:n.*12C>T
ENST00000699926.1:c.184C>T	ENSP00000514692.1:p.Arg62Cys
ENST00000699934.1:c.159+22C>T	ENSP00000514697.1:n.159+22C>T
ENST00000699935.1:c.205C>T	ENSP00000514698.1:p.Arg69Cys
ENST00000699936.1:c.115C>T	ENSP00000514699.1:p.Arg39Cys
ENST00000699937.1:c.166C>T	ENSP00000514700.1:p.Arg56Cys
ENST00000699938.1:c.159+22C>T	ENSP00000514701.1:n.159+22C>T
ENST00000699939.1:n.328C>T
ENST00000328848.6:c.181C>T MANE Select	ENSP00000332198.5:p.Arg61Cys
ENST00000328848.5:c.181C>T	ENSP00000332198.4:p.Arg61Cys
ENST00000557912.1:c.*12C>T	ENSP00000453475.1:n.*12C>T
NM_018648.3:c.181C>T , LRG_345t1:c.181C>T	NP_061118.1:p.Arg61Cys
NM_018648.4:c.181C>T MANE Select	NP_061118.1:p.Arg61Cys