Canonical Allele Identifier: CA321355
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214672
ClinVar RCV Id: RCV000196934 RCV002517232
dbSNP Id: rs767062387
ExAC: 10:75010644 G / A
gnomAD v2: 10-75010644-G-A
gnomAD v3: 10-73250886-G-A
gnomAD v4: 10-73250886-G-A
MyVariant Identifiers: chr10:g.75010644G>A (hg19) chr10:g.73250886G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73250886G>A , CM000672.2:g.73250886G>A GRCh38
NC_000010.10:g.75010644G>A , CM000672.1:g.75010644G>A GRCh37
NC_000010.9:g.74680650G>A NCBI36
NG_008096.1:g.6808C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.380C>T (MRPS16) MANE Select ENSP00000362036.3:p.Ala127Val
ENST00000372940.3:c.274+877C>T (MRPS16) ENSP00000362031.3:n.274+877C>T
ENST00000372945.7:c.380C>T (MRPS16) ENSP00000362036.3:p.Ala127Val
ENST00000471251.5:n.513C>T (MRPS16)
ENST00000473427.1:n.470C>T (MRPS16)
ENST00000479005.1:n.537C>T (MRPS16)
NM_016065.3:c.380C>T (MRPS16) NP_057149.1:p.Ala127Val
NR_038373.1:n.175+2436G>A (DNAJC9-AS1)
NM_016065.4:c.380C>T (MRPS16) MANE Select NP_057149.1:p.Ala127Val
Search 100 bp 5'
Search 100 bp 3'