Canonical Allele Identifier: CA5553397
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3208703
ClinVar RCV Id: RCV004502599
dbSNP Id: rs769313057
ExAC: 10:75011625 A / G
gnomAD v2: 10-75011625-A-G
gnomAD v4: 10-73251867-A-G
MyVariant Identifiers: chr10:g.75011625A>G (hg19) chr10:g.73251867A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251867A>G , CM000672.2:g.73251867A>G GRCh38
NC_000010.10:g.75011625A>G , CM000672.1:g.75011625A>G GRCh37
NC_000010.9:g.74681631A>G NCBI36
NG_008096.1:g.5827T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.170T>C (MRPS16) MANE Select ENSP00000362036.3:p.Leu57Ser
ENST00000372940.3:c.170T>C (MRPS16) ENSP00000362031.3:p.Leu57Ser
ENST00000372945.7:c.170T>C (MRPS16) ENSP00000362036.3:p.Leu57Ser
ENST00000471251.5:n.303T>C (MRPS16)
ENST00000473427.1:n.260T>C (MRPS16)
ENST00000479005.1:n.327T>C (MRPS16)
NM_016065.3:c.170T>C (MRPS16) NP_057149.1:p.Leu57Ser
NR_038373.1:n.175+3417A>G (DNAJC9-AS1)
XR_946059.1:n.120+126A>G
NM_016065.4:c.170T>C (MRPS16) MANE Select NP_057149.1:p.Leu57Ser
Search 100 bp 5'
Search 100 bp 3'