Canonical Allele Identifier: CA391621937

Gene: NOP10

Linked Data

• dbSNP Id: rs1427661240
• gnomAD v2: 15-34634182-C-T
• gnomAD v3: 15-34341981-C-T
• gnomAD v4: 15-34341981-C-T
• MyVariant Identifiers: chr15:g.34634182C>T (hg19) ; chr15:g.34341981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34341981C>T , CM000677.2:g.34341981C>T	GRCh38
NC_000015.9:g.34634182C>T , CM000677.1:g.34634182C>T	GRCh37
NC_000015.8:g.32421474C>T	NCBI36
NG_007951.1:g.1084G>A , LRG_270:g.1084G>A
NG_011562.1:g.6181G>A , LRG_345:g.6181G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557912.2:c.*13G>A	ENSP00000453475.1:n.*13G>A
ENST00000699926.1:c.185G>A	ENSP00000514692.1:p.Arg62His
ENST00000699934.1:c.159+23G>A	ENSP00000514697.1:n.159+23G>A
ENST00000699935.1:c.206G>A	ENSP00000514698.1:p.Arg69His
ENST00000699936.1:c.116G>A	ENSP00000514699.1:p.Arg39His
ENST00000699937.1:c.167G>A	ENSP00000514700.1:p.Arg56His
ENST00000699938.1:c.159+23G>A	ENSP00000514701.1:n.159+23G>A
ENST00000699939.1:n.329G>A
ENST00000328848.6:c.182G>A MANE Select	ENSP00000332198.5:p.Arg61His
ENST00000328848.5:c.182G>A	ENSP00000332198.4:p.Arg61His
ENST00000557912.1:c.*13G>A	ENSP00000453475.1:n.*13G>A
NM_018648.3:c.182G>A , LRG_345t1:c.182G>A	NP_061118.1:p.Arg61His
NM_018648.4:c.182G>A MANE Select	NP_061118.1:p.Arg61His