Canonical Allele Identifier: CA2609653963

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs2133437843
• gnomAD v4: 10-73249422-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73249422G>T , CM000672.2:g.73249422G>T	GRCh38
NC_000010.10:g.75009180G>T , CM000672.1:g.75009180G>T	GRCh37
NC_000010.9:g.74679186G>T	NCBI36
NG_008096.1:g.8272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.*1430C>A (MRPS16) MANE Select	ENSP00000362036.3:n.*1430C>A
ENST00000372940.3:c.275-104C>A (MRPS16)	ENSP00000362031.3:n.275-104C>A
ENST00000372945.7:c.*1430C>A (MRPS16)	ENSP00000362036.3:n.*1430C>A
ENST00000479005.1:n.2001C>A (MRPS16)
NM_016065.3:c.*1430C>A (MRPS16)	NP_057149.1:n.*1430C>A
NR_038373.1:n.175+972G>T (DNAJC9-AS1)
NM_016065.4:c.*1430C>A (MRPS16) MANE Select	NP_057149.1:n.*1430C>A