Canonical Allele Identifier: CA594707486

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs749532687
• gnomAD v2: 10-75011808-CA-C
• gnomAD v3: 10-73252050-CA-C
• gnomAD v4: 10-73252050-CA-C
• MyVariant Identifiers: chr10:g.75011809del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73252056del , CM000672.2:g.73252056del	GRCh38
NC_000010.10:g.75011814del , CM000672.1:g.75011814del	GRCh37
NC_000010.9:g.74681820del	NCBI36
NG_008096.1:g.5643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.14-28del (MRPS16) MANE Select	ENSP00000362036.3:n.14-28del
ENST00000372940.3:c.14-28del (MRPS16)	ENSP00000362031.3:n.14-28del
ENST00000372945.7:c.14-28del (MRPS16)	ENSP00000362036.3:n.14-28del
ENST00000471251.5:n.147-28del (MRPS16)
ENST00000473427.1:n.104-28del (MRPS16)
ENST00000479005.1:n.157-14del (MRPS16)
NM_016065.3:c.14-28del (MRPS16)	NP_057149.1:n.14-28del
NR_038373.1:n.175+3606del (DNAJC9-AS1)
XR_946059.1:n.120+315del
NM_016065.4:c.14-28del (MRPS16) MANE Select	NP_057149.1:n.14-28del