Canonical Allele Identifier: CA377193048
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1971809
ClinVar RCV Id: RCV002741017
dbSNP Id: rs1589211230
gnomAD v4: 10-73251845-T-G
MyVariant Identifiers: chr10:g.75011603T>G (hg19) chr10:g.73251845T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251845T>G , CM000672.2:g.73251845T>G GRCh38
NC_000010.10:g.75011603T>G , CM000672.1:g.75011603T>G GRCh37
NC_000010.9:g.74681609T>G NCBI36
NG_008096.1:g.5849A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.192A>C (MRPS16) MANE Select ENSP00000362036.3:p.Lys64Asn
ENST00000372940.3:c.192A>C (MRPS16) ENSP00000362031.3:p.Lys64Asn
ENST00000372945.7:c.192A>C (MRPS16) ENSP00000362036.3:p.Lys64Asn
ENST00000471251.5:n.325A>C (MRPS16)
ENST00000473427.1:n.282A>C (MRPS16)
ENST00000479005.1:n.349A>C (MRPS16)
NM_016065.3:c.192A>C (MRPS16) NP_057149.1:p.Lys64Asn
NR_038373.1:n.175+3395T>G (DNAJC9-AS1)
XR_946059.1:n.120+104T>G
NM_016065.4:c.192A>C (MRPS16) MANE Select NP_057149.1:p.Lys64Asn
Search 100 bp 5'
Search 100 bp 3'