Canonical Allele Identifier: CA321765
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214669
ClinVar RCV Id: RCV000197312
dbSNP Id: rs766669461
ExAC: 10:75011757 C / T
gnomAD v2: 10-75011757-C-T
gnomAD v4: 10-73251999-C-T
MyVariant Identifiers: chr10:g.75011757C>T (hg19) chr10:g.73251999C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251999C>T , CM000672.2:g.73251999C>T GRCh38
NC_000010.10:g.75011757C>T , CM000672.1:g.75011757C>T GRCh37
NC_000010.9:g.74681763C>T NCBI36
NG_008096.1:g.5695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.38G>A (MRPS16) MANE Select ENSP00000362036.3:p.Arg13His
ENST00000372940.3:c.38G>A (MRPS16) ENSP00000362031.3:p.Arg13His
ENST00000372945.7:c.38G>A (MRPS16) ENSP00000362036.3:p.Arg13His
ENST00000471251.5:n.171G>A (MRPS16)
ENST00000473427.1:n.128G>A (MRPS16)
ENST00000479005.1:n.195G>A (MRPS16)
NM_016065.3:c.38G>A (MRPS16) NP_057149.1:p.Arg13His
NR_038373.1:n.175+3549C>T (DNAJC9-AS1)
XR_946059.1:n.120+258C>T
NM_016065.4:c.38G>A (MRPS16) MANE Select NP_057149.1:p.Arg13His
Search 100 bp 5'
Search 100 bp 3'