Canonical Allele Identifier: CA10636242
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 300690
ClinVar RCV Id: RCV000331294
dbSNP Id: rs2018198
gnomAD v2: 10-75009107-T-C
gnomAD v3: 10-73249349-T-C
gnomAD v4: 10-73249349-T-C
MyVariant Identifiers: chr10:g.75009107T>C (hg19) chr10:g.73249349T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249349T>C , CM000672.2:g.73249349T>C GRCh38
NC_000010.10:g.75009107T>C , CM000672.1:g.75009107T>C GRCh37
NC_000010.9:g.74679113T>C NCBI36
NG_008096.1:g.8345A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372945.8:c.*1503A>G (MRPS16) MANE Select ENSP00000362036.3:n.*1503A>G
ENST00000372940.3:c.275-31A>G (MRPS16) ENSP00000362031.3:n.275-31A>G
ENST00000372945.7:c.*1503A>G (MRPS16) ENSP00000362036.3:n.*1503A>G
ENST00000479005.1:n.2074A>G (MRPS16)
NM_016065.3:c.*1503A>G (MRPS16) NP_057149.1:n.*1503A>G
NR_038373.1:n.175+899T>C (DNAJC9-AS1)
NM_016065.4:c.*1503A>G (MRPS16) MANE Select NP_057149.1:n.*1503A>G
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