Canonical Allele Identifier: CA1919528991

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs2044056669
• gnomAD v4: 10-73249550-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73249554del , CM000672.2:g.73249554del	GRCh38
NC_000010.10:g.75009312del , CM000672.1:g.75009312del	GRCh37
NC_000010.9:g.74679318del	NCBI36
NG_008096.1:g.8143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.*1301del (MRPS16) MANE Select	ENSP00000362036.3:n.*1301del
ENST00000372940.3:c.275-233del (MRPS16)	ENSP00000362031.3:n.275-233del
ENST00000372945.7:c.*1301del (MRPS16)	ENSP00000362036.3:n.*1301del
ENST00000479005.1:n.1872del (MRPS16)
NM_016065.3:c.*1301del (MRPS16)	NP_057149.1:n.*1301del
NR_038373.1:n.175+1104del (DNAJC9-AS1)
NM_016065.4:c.*1301del (MRPS16) MANE Select	NP_057149.1:n.*1301del