Canonical Allele Identifier: CA5553429
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 300723
ClinVar RCV Id: RCV000677073
dbSNP Id: rs7905009
ExAC: 10:75011761 A / G
gnomAD v2: 10-75011761-A-G
gnomAD v3: 10-73252003-A-G
gnomAD v4: 10-73252003-A-G
MyVariant Identifiers: chr10:g.75011761A>G (hg19) chr10:g.73252003A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73252003A>G , CM000672.2:g.73252003A>G GRCh38
NC_000010.10:g.75011761A>G , CM000672.1:g.75011761A>G GRCh37
NC_000010.9:g.74681767A>G NCBI36
NG_008096.1:g.5691T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372945.8:c.34T>C (MRPS16) MANE Select ENSP00000362036.3:p.Tyr12His
ENST00000372940.3:c.34T>C (MRPS16) ENSP00000362031.3:p.Tyr12His
ENST00000372945.7:c.34T>C (MRPS16) ENSP00000362036.3:p.Tyr12His
ENST00000471251.5:n.167T>C (MRPS16)
ENST00000473427.1:n.124T>C (MRPS16)
ENST00000479005.1:n.191T>C (MRPS16)
NM_016065.3:c.34T>C (MRPS16) NP_057149.1:p.Tyr12His
NR_038373.1:n.175+3553A>G (DNAJC9-AS1)
XR_946059.1:n.120+262A>G
NM_016065.4:c.34T>C (MRPS16) MANE Select NP_057149.1:p.Tyr12His
Search 100 bp 5'
Search 100 bp 3'