Canonical Allele Identifier: CA324038

Gene: MRPS16 DNAJC9-AS1

Linked Data

• ClinVar Variation Id: 214673
• ClinVar RCV Id: RCV000585190 ; RCV003917796
• dbSNP Id: rs117510230
• ExAC: 10:75010635 G / C
• gnomAD v2: 10-75010635-G-C
• gnomAD v3: 10-73250877-G-C
• gnomAD v4: 10-73250877-G-C
• MyVariant Identifiers: chr10:g.75010635G>C (hg19) ; chr10:g.73250877G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73250877G>C , CM000672.2:g.73250877G>C	GRCh38
NC_000010.10:g.75010635G>C , CM000672.1:g.75010635G>C	GRCh37
NC_000010.9:g.74680641G>C	NCBI36
NG_008096.1:g.6817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.389C>G (MRPS16) MANE Select	ENSP00000362036.3:p.Thr130Arg
ENST00000372940.3:c.274+886C>G (MRPS16)	ENSP00000362031.3:n.274+886C>G
ENST00000372945.7:c.389C>G (MRPS16)	ENSP00000362036.3:p.Thr130Arg
ENST00000471251.5:n.522C>G (MRPS16)
ENST00000473427.1:n.479C>G (MRPS16)
ENST00000479005.1:n.546C>G (MRPS16)
NM_016065.3:c.389C>G (MRPS16)	NP_057149.1:p.Thr130Arg
NR_038373.1:n.175+2427G>C (DNAJC9-AS1)
NM_016065.4:c.389C>G (MRPS16) MANE Select	NP_057149.1:p.Thr130Arg