Canonical Allele Identifier: CA209592589
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1014616438
gnomAD v3: 10-73249362-T-C
gnomAD v4: 10-73249362-T-C
MyVariant Identifiers: chr10:g.75009120T>C (hg19) chr10:g.73249362T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249362T>C , CM000672.2:g.73249362T>C GRCh38
NC_000010.10:g.75009120T>C , CM000672.1:g.75009120T>C GRCh37
NC_000010.9:g.74679126T>C NCBI36
NG_008096.1:g.8332A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1490A>G (MRPS16) MANE Select ENSP00000362036.3:n.*1490A>G
ENST00000372940.3:c.275-44A>G (MRPS16) ENSP00000362031.3:n.275-44A>G
ENST00000372945.7:c.*1490A>G (MRPS16) ENSP00000362036.3:n.*1490A>G
ENST00000479005.1:n.2061A>G (MRPS16)
NM_016065.3:c.*1490A>G (MRPS16) NP_057149.1:n.*1490A>G
NR_038373.1:n.175+912T>C (DNAJC9-AS1)
NM_016065.4:c.*1490A>G (MRPS16) MANE Select NP_057149.1:n.*1490A>G
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