Canonical Allele Identifier: CA5553424

Gene: MRPS16 DNAJC9-AS1

Linked Data

• ClinVar Variation Id: 300722
• ClinVar RCV Id: RCV000937717
• dbSNP Id: rs202242186
• ExAC: 10:75011736 C / T
• gnomAD v2: 10-75011736-C-T
• gnomAD v3: 10-73251978-C-T
• gnomAD v4: 10-73251978-C-T
• COSMIC: COSM2161861 ; COSM4946337
• MyVariant Identifiers: chr10:g.75011736C>T (hg19) ; chr10:g.73251978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251978C>T , CM000672.2:g.73251978C>T	GRCh38
NC_000010.10:g.75011736C>T , CM000672.1:g.75011736C>T	GRCh37
NC_000010.9:g.74681742C>T	NCBI36
NG_008096.1:g.5716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.59G>A (MRPS16) MANE Select	ENSP00000362036.3:p.Arg20His
ENST00000372940.3:c.59G>A (MRPS16)	ENSP00000362031.3:p.Arg20His
ENST00000372945.7:c.59G>A (MRPS16)	ENSP00000362036.3:p.Arg20His
ENST00000471251.5:n.192G>A (MRPS16)
ENST00000473427.1:n.149G>A (MRPS16)
ENST00000479005.1:n.216G>A (MRPS16)
NM_016065.3:c.59G>A (MRPS16)	NP_057149.1:p.Arg20His
NR_038373.1:n.175+3528C>T (DNAJC9-AS1)
XR_946059.1:n.120+237C>T
NM_016065.4:c.59G>A (MRPS16) MANE Select	NP_057149.1:p.Arg20His