Canonical Allele Identifier: CA929892106

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs2044111140
• gnomAD v3: 10-73251917-C-CT
• gnomAD v4: 10-73251917-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251919dup , CM000672.2:g.73251919dup	GRCh38
NC_000010.10:g.75011677dup , CM000672.1:g.75011677dup	GRCh37
NC_000010.9:g.74681683dup	NCBI36
NG_008096.1:g.5776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.119dup (MRPS16) MANE Select	ENSP00000362036.3:p.Cys41ValfsTer15
ENST00000372940.3:c.119dup (MRPS16)	ENSP00000362031.3:p.Cys41ValfsTer15
ENST00000372945.7:c.119dup (MRPS16)	ENSP00000362036.3:p.Cys41ValfsTer15
ENST00000471251.5:n.252dup (MRPS16)
ENST00000473427.1:n.209dup (MRPS16)
ENST00000479005.1:n.276dup (MRPS16)
NM_016065.3:c.119dup (MRPS16)	NP_057149.1:p.Cys41ValfsTer15
NR_038373.1:n.175+3469dup (DNAJC9-AS1)
XR_946059.1:n.120+178dup
NM_016065.4:c.119dup (MRPS16) MANE Select	NP_057149.1:p.Cys41ValfsTer15