Canonical Allele Identifier: CA470285586

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs369695042
• gnomAD v3: 10-73251833-G-C
• gnomAD v4: 10-73251833-G-C
• MyVariant Identifiers: chr10:g.75011591G>C (hg19) ; chr10:g.73251833G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251833G>C , CM000672.2:g.73251833G>C	GRCh38
NC_000010.10:g.75011591G>C , CM000672.1:g.75011591G>C	GRCh37
NC_000010.9:g.74681597G>C	NCBI36
NG_008096.1:g.5861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.204C>G (MRPS16) MANE Select	ENSP00000362036.3:p.Leu68=
ENST00000372940.3:c.204C>G (MRPS16)	ENSP00000362031.3:p.Leu68=
ENST00000372945.7:c.204C>G (MRPS16)	ENSP00000362036.3:p.Leu68=
ENST00000471251.5:n.337C>G (MRPS16)
ENST00000473427.1:n.294C>G (MRPS16)
ENST00000479005.1:n.361C>G (MRPS16)
NM_016065.3:c.204C>G (MRPS16)	NP_057149.1:p.Leu68=
NR_038373.1:n.175+3383G>C (DNAJC9-AS1)
XR_946059.1:n.120+92G>C
NM_016065.4:c.204C>G (MRPS16) MANE Select	NP_057149.1:p.Leu68=