Canonical Allele Identifier: CA5553413
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1950185
ClinVar RCV Id: RCV002671563
dbSNP Id: rs781692834
ExAC: 10:75011706 G / A
gnomAD v2: 10-75011706-G-A
gnomAD v3: 10-73251948-G-A
gnomAD v4: 10-73251948-G-A
MyVariant Identifiers: chr10:g.75011706G>A (hg19) chr10:g.73251948G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251948G>A , CM000672.2:g.73251948G>A GRCh38
NC_000010.10:g.75011706G>A , CM000672.1:g.75011706G>A GRCh37
NC_000010.9:g.74681712G>A NCBI36
NG_008096.1:g.5746C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.89C>T (MRPS16) MANE Select ENSP00000362036.3:p.Pro30Leu
ENST00000372940.3:c.89C>T (MRPS16) ENSP00000362031.3:p.Pro30Leu
ENST00000372945.7:c.89C>T (MRPS16) ENSP00000362036.3:p.Pro30Leu
ENST00000471251.5:n.222C>T (MRPS16)
ENST00000473427.1:n.179C>T (MRPS16)
ENST00000479005.1:n.246C>T (MRPS16)
NM_016065.3:c.89C>T (MRPS16) NP_057149.1:p.Pro30Leu
NR_038373.1:n.175+3498G>A (DNAJC9-AS1)
XR_946059.1:n.120+207G>A
NM_016065.4:c.89C>T (MRPS16) MANE Select NP_057149.1:p.Pro30Leu
Search 100 bp 5'
Search 100 bp 3'