Canonical Allele Identifier: CA1919528944

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs2044055234
• gnomAD v4: 10-73249443-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73249443G>C , CM000672.2:g.73249443G>C	GRCh38
NC_000010.10:g.75009201G>C , CM000672.1:g.75009201G>C	GRCh37
NC_000010.9:g.74679207G>C	NCBI36
NG_008096.1:g.8251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.*1409C>G (MRPS16) MANE Select	ENSP00000362036.3:n.*1409C>G
ENST00000372940.3:c.275-125C>G (MRPS16)	ENSP00000362031.3:n.275-125C>G
ENST00000372945.7:c.*1409C>G (MRPS16)	ENSP00000362036.3:n.*1409C>G
ENST00000479005.1:n.1980C>G (MRPS16)
NM_016065.3:c.*1409C>G (MRPS16)	NP_057149.1:n.*1409C>G
NR_038373.1:n.175+993G>C (DNAJC9-AS1)
NM_016065.4:c.*1409C>G (MRPS16) MANE Select	NP_057149.1:n.*1409C>G