Canonical Allele Identifier: CA377193104
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2827721
ClinVar RCV Id: RCV003683747
gnomAD v4: 10-73251871-G-C
MyVariant Identifiers: chr10:g.75011629G>C (hg19) chr10:g.73251871G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251871G>C , CM000672.2:g.73251871G>C GRCh38
NC_000010.10:g.75011629G>C , CM000672.1:g.75011629G>C GRCh37
NC_000010.9:g.74681635G>C NCBI36
NG_008096.1:g.5823C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.166C>G (MRPS16) MANE Select ENSP00000362036.3:p.Pro56Ala
ENST00000372940.3:c.166C>G (MRPS16) ENSP00000362031.3:p.Pro56Ala
ENST00000372945.7:c.166C>G (MRPS16) ENSP00000362036.3:p.Pro56Ala
ENST00000471251.5:n.299C>G (MRPS16)
ENST00000473427.1:n.256C>G (MRPS16)
ENST00000479005.1:n.323C>G (MRPS16)
NM_016065.3:c.166C>G (MRPS16) NP_057149.1:p.Pro56Ala
NR_038373.1:n.175+3421G>C (DNAJC9-AS1)
XR_946059.1:n.120+130G>C
NM_016065.4:c.166C>G (MRPS16) MANE Select NP_057149.1:p.Pro56Ala
Search 100 bp 5'
Search 100 bp 3'