Canonical Allele Identifier: CA2609655231
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251899dup , CM000672.2:g.73251899dup GRCh38
NC_000010.10:g.75011657dup , CM000672.1:g.75011657dup GRCh37
NC_000010.9:g.74681663dup NCBI36
NG_008096.1:g.5797dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.140dup (MRPS16) MANE Select ENSP00000362036.3:p.Val48ArgfsTer8
ENST00000372940.3:c.140dup (MRPS16) ENSP00000362031.3:p.Val48ArgfsTer8
ENST00000372945.7:c.140dup (MRPS16) ENSP00000362036.3:p.Val48ArgfsTer8
ENST00000471251.5:n.273dup (MRPS16)
ENST00000473427.1:n.230dup (MRPS16)
ENST00000479005.1:n.297dup (MRPS16)
NM_016065.3:c.140dup (MRPS16) NP_057149.1:p.Val48ArgfsTer8
NR_038373.1:n.175+3449dup (DNAJC9-AS1)
XR_946059.1:n.120+158dup
NM_016065.4:c.140dup (MRPS16) MANE Select NP_057149.1:p.Val48ArgfsTer8