Canonical Allele Identifier: CA377193149
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2044109881
gnomAD v4: 10-73251892-C-G
MyVariant Identifiers: chr10:g.75011650C>G (hg19) chr10:g.73251892C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251892C>G , CM000672.2:g.73251892C>G GRCh38
NC_000010.10:g.75011650C>G , CM000672.1:g.75011650C>G GRCh37
NC_000010.9:g.74681656C>G NCBI36
NG_008096.1:g.5802G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.145G>C (MRPS16) MANE Select ENSP00000362036.3:p.Glu49Gln
ENST00000372940.3:c.145G>C (MRPS16) ENSP00000362031.3:p.Glu49Gln
ENST00000372945.7:c.145G>C (MRPS16) ENSP00000362036.3:p.Glu49Gln
ENST00000471251.5:n.278G>C (MRPS16)
ENST00000473427.1:n.235G>C (MRPS16)
ENST00000479005.1:n.302G>C (MRPS16)
NM_016065.3:c.145G>C (MRPS16) NP_057149.1:p.Glu49Gln
NR_038373.1:n.175+3442C>G (DNAJC9-AS1)
XR_946059.1:n.120+151C>G
NM_016065.4:c.145G>C (MRPS16) MANE Select NP_057149.1:p.Glu49Gln
Search 100 bp 5'
Search 100 bp 3'