Canonical Allele Identifier: CA209592600
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs953488319
gnomAD v2: 10-75009224-C-G
gnomAD v3: 10-73249466-C-G
gnomAD v4: 10-73249466-C-G
MyVariant Identifiers: chr10:g.75009224C>G (hg19) chr10:g.73249466C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249466C>G , CM000672.2:g.73249466C>G GRCh38
NC_000010.10:g.75009224C>G , CM000672.1:g.75009224C>G GRCh37
NC_000010.9:g.74679230C>G NCBI36
NG_008096.1:g.8228G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1386G>C (MRPS16) MANE Select ENSP00000362036.3:n.*1386G>C
ENST00000372940.3:c.275-148G>C (MRPS16) ENSP00000362031.3:n.275-148G>C
ENST00000372945.7:c.*1386G>C (MRPS16) ENSP00000362036.3:n.*1386G>C
ENST00000479005.1:n.1957G>C (MRPS16)
NM_016065.3:c.*1386G>C (MRPS16) NP_057149.1:n.*1386G>C
NR_038373.1:n.175+1016C>G (DNAJC9-AS1)
NM_016065.4:c.*1386G>C (MRPS16) MANE Select NP_057149.1:n.*1386G>C
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