Canonical Allele Identifier: CA209592628
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1052849573
gnomAD v3: 10-73249546-G-A
gnomAD v4: 10-73249546-G-A
MyVariant Identifiers: chr10:g.75009304G>A (hg19) chr10:g.73249546G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249546G>A , CM000672.2:g.73249546G>A GRCh38
NC_000010.10:g.75009304G>A , CM000672.1:g.75009304G>A GRCh37
NC_000010.9:g.74679310G>A NCBI36
NG_008096.1:g.8148C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1306C>T (MRPS16) MANE Select ENSP00000362036.3:n.*1306C>T
ENST00000372940.3:c.275-228C>T (MRPS16) ENSP00000362031.3:n.275-228C>T
ENST00000372945.7:c.*1306C>T (MRPS16) ENSP00000362036.3:n.*1306C>T
ENST00000479005.1:n.1877C>T (MRPS16)
NM_016065.3:c.*1306C>T (MRPS16) NP_057149.1:n.*1306C>T
NR_038373.1:n.175+1096G>A (DNAJC9-AS1)
NM_016065.4:c.*1306C>T (MRPS16) MANE Select NP_057149.1:n.*1306C>T
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