Canonical Allele Identifier: CA377193432
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1392416
ClinVar RCV Id: RCV001882171
dbSNP Id: rs2133443795
gnomAD v4: 10-73251982-T-C
MyVariant Identifiers: chr10:g.75011740T>C (hg19) chr10:g.73251982T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251982T>C , CM000672.2:g.73251982T>C GRCh38
NC_000010.10:g.75011740T>C , CM000672.1:g.75011740T>C GRCh37
NC_000010.9:g.74681746T>C NCBI36
NG_008096.1:g.5712A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.55A>G (MRPS16) MANE Select ENSP00000362036.3:p.Ile19Val
ENST00000372940.3:c.55A>G (MRPS16) ENSP00000362031.3:p.Ile19Val
ENST00000372945.7:c.55A>G (MRPS16) ENSP00000362036.3:p.Ile19Val
ENST00000471251.5:n.188A>G (MRPS16)
ENST00000473427.1:n.145A>G (MRPS16)
ENST00000479005.1:n.212A>G (MRPS16)
NM_016065.3:c.55A>G (MRPS16) NP_057149.1:p.Ile19Val
NR_038373.1:n.175+3532T>C (DNAJC9-AS1)
XR_946059.1:n.120+241T>C
NM_016065.4:c.55A>G (MRPS16) MANE Select NP_057149.1:p.Ile19Val
Search 100 bp 5'
Search 100 bp 3'