Canonical Allele Identifier: CA1919533207

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs2044111508
• gnomAD v4: 10-73251921-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251924_73251925dup , CM000672.2:g.73251924_73251925dup	GRCh38
NC_000010.10:g.75011682_75011683dup , CM000672.1:g.75011682_75011683dup	GRCh37
NC_000010.9:g.74681688_74681689dup	NCBI36
NG_008096.1:g.5771_5772dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.114_115dup (MRPS16) MANE Select	ENSP00000362036.3:p.Asn39ThrfsTer11
ENST00000372940.3:c.114_115dup (MRPS16)	ENSP00000362031.3:p.Asn39ThrfsTer11
ENST00000372945.7:c.114_115dup (MRPS16)	ENSP00000362036.3:p.Asn39ThrfsTer11
ENST00000471251.5:n.247_248dup (MRPS16)
ENST00000473427.1:n.204_205dup (MRPS16)
ENST00000479005.1:n.271_272dup (MRPS16)
NM_016065.3:c.114_115dup (MRPS16)	NP_057149.1:p.Asn39ThrfsTer11
NR_038373.1:n.175+3474_175+3475dup (DNAJC9-AS1)
XR_946059.1:n.120+183_120+184dup
NM_016065.4:c.114_115dup (MRPS16) MANE Select	NP_057149.1:p.Asn39ThrfsTer11