Canonical Allele Identifier: CA1919528960

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs1589209595
• gnomAD v3: 10-73249482-T-C
• gnomAD v4: 10-73249482-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73249482T>C , CM000672.2:g.73249482T>C	GRCh38
NC_000010.10:g.75009240T>C , CM000672.1:g.75009240T>C	GRCh37
NC_000010.9:g.74679246T>C	NCBI36
NG_008096.1:g.8212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.*1370A>G (MRPS16) MANE Select	ENSP00000362036.3:n.*1370A>G
ENST00000372940.3:c.275-164A>G (MRPS16)	ENSP00000362031.3:n.275-164A>G
ENST00000372945.7:c.*1370A>G (MRPS16)	ENSP00000362036.3:n.*1370A>G
ENST00000479005.1:n.1941A>G (MRPS16)
NM_016065.3:c.*1370A>G (MRPS16)	NP_057149.1:n.*1370A>G
NR_038373.1:n.175+1032T>C (DNAJC9-AS1)
NM_016065.4:c.*1370A>G (MRPS16) MANE Select	NP_057149.1:n.*1370A>G