Canonical Allele Identifier: CA209592601
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs564745765
gnomAD v2: 10-75009227-G-A
gnomAD v3: 10-73249469-G-A
gnomAD v4: 10-73249469-G-A
MyVariant Identifiers: chr10:g.75009227G>A (hg19) chr10:g.73249469G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249469G>A , CM000672.2:g.73249469G>A GRCh38
NC_000010.10:g.75009227G>A , CM000672.1:g.75009227G>A GRCh37
NC_000010.9:g.74679233G>A NCBI36
NG_008096.1:g.8225C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1383C>T (MRPS16) MANE Select ENSP00000362036.3:n.*1383C>T
ENST00000372940.3:c.275-151C>T (MRPS16) ENSP00000362031.3:n.275-151C>T
ENST00000372945.7:c.*1383C>T (MRPS16) ENSP00000362036.3:n.*1383C>T
ENST00000479005.1:n.1954C>T (MRPS16)
NM_016065.3:c.*1383C>T (MRPS16) NP_057149.1:n.*1383C>T
NR_038373.1:n.175+1019G>A (DNAJC9-AS1)
NM_016065.4:c.*1383C>T (MRPS16) MANE Select NP_057149.1:n.*1383C>T
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Search 100 bp 3'