Canonical Allele Identifier: CA377193138
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1995095
ClinVar RCV Id: RCV002791626
dbSNP Id: rs1317569684
gnomAD v3: 10-73251888-T-A
gnomAD v4: 10-73251888-T-A
MyVariant Identifiers: chr10:g.75011646T>A (hg19) chr10:g.73251888T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251888T>A , CM000672.2:g.73251888T>A GRCh38
NC_000010.10:g.75011646T>A , CM000672.1:g.75011646T>A GRCh37
NC_000010.9:g.74681652T>A NCBI36
NG_008096.1:g.5806A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.149A>T (MRPS16) MANE Select ENSP00000362036.3:p.Gln50Leu
ENST00000372940.3:c.149A>T (MRPS16) ENSP00000362031.3:p.Gln50Leu
ENST00000372945.7:c.149A>T (MRPS16) ENSP00000362036.3:p.Gln50Leu
ENST00000471251.5:n.282A>T (MRPS16)
ENST00000473427.1:n.239A>T (MRPS16)
ENST00000479005.1:n.306A>T (MRPS16)
NM_016065.3:c.149A>T (MRPS16) NP_057149.1:p.Gln50Leu
NR_038373.1:n.175+3438T>A (DNAJC9-AS1)
XR_946059.1:n.120+147T>A
NM_016065.4:c.149A>T (MRPS16) MANE Select NP_057149.1:p.Gln50Leu
Search 100 bp 5'
Search 100 bp 3'