Canonical Allele Identifier: CA377193120
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1397969486
gnomAD v2: 10-75011637-G-A
gnomAD v3: 10-73251879-G-A
gnomAD v4: 10-73251879-G-A
MyVariant Identifiers: chr10:g.75011637G>A (hg19) chr10:g.73251879G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251879G>A , CM000672.2:g.73251879G>A GRCh38
NC_000010.10:g.75011637G>A , CM000672.1:g.75011637G>A GRCh37
NC_000010.9:g.74681643G>A NCBI36
NG_008096.1:g.5815C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.158C>T (MRPS16) MANE Select ENSP00000362036.3:p.Ser53Phe
ENST00000372940.3:c.158C>T (MRPS16) ENSP00000362031.3:p.Ser53Phe
ENST00000372945.7:c.158C>T (MRPS16) ENSP00000362036.3:p.Ser53Phe
ENST00000471251.5:n.291C>T (MRPS16)
ENST00000473427.1:n.248C>T (MRPS16)
ENST00000479005.1:n.315C>T (MRPS16)
NM_016065.3:c.158C>T (MRPS16) NP_057149.1:p.Ser53Phe
NR_038373.1:n.175+3429G>A (DNAJC9-AS1)
XR_946059.1:n.120+138G>A
NM_016065.4:c.158C>T (MRPS16) MANE Select NP_057149.1:p.Ser53Phe
Search 100 bp 5'
Search 100 bp 3'