Canonical Allele Identifier: CA209592632
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs778852449
gnomAD v3: 10-73249557-A-C
gnomAD v4: 10-73249557-A-C
MyVariant Identifiers: chr10:g.75009315A>C (hg19) chr10:g.73249557A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249557A>C , CM000672.2:g.73249557A>C GRCh38
NC_000010.10:g.75009315A>C , CM000672.1:g.75009315A>C GRCh37
NC_000010.9:g.74679321A>C NCBI36
NG_008096.1:g.8137T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1295T>G (MRPS16) MANE Select ENSP00000362036.3:n.*1295T>G
ENST00000372940.3:c.275-239T>G (MRPS16) ENSP00000362031.3:n.275-239T>G
ENST00000372945.7:c.*1295T>G (MRPS16) ENSP00000362036.3:n.*1295T>G
ENST00000479005.1:n.1866T>G (MRPS16)
NM_016065.3:c.*1295T>G (MRPS16) NP_057149.1:n.*1295T>G
NR_038373.1:n.175+1107A>C (DNAJC9-AS1)
NM_016065.4:c.*1295T>G (MRPS16) MANE Select NP_057149.1:n.*1295T>G
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