Canonical Allele Identifier: CA470285694
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1170874590
MyVariant Identifiers: chr10:g.75011705C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251947C>T , CM000672.2:g.73251947C>T GRCh38
NC_000010.10:g.75011705C>T , CM000672.1:g.75011705C>T GRCh37
NC_000010.9:g.74681711C>T NCBI36
NG_008096.1:g.5747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.90G>A (MRPS16) MANE Select ENSP00000362036.3:p.Pro30=
ENST00000372940.3:c.90G>A (MRPS16) ENSP00000362031.3:p.Pro30=
ENST00000372945.7:c.90G>A (MRPS16) ENSP00000362036.3:p.Pro30=
ENST00000471251.5:n.223G>A (MRPS16)
ENST00000473427.1:n.180G>A (MRPS16)
ENST00000479005.1:n.247G>A (MRPS16)
NM_016065.3:c.90G>A (MRPS16) NP_057149.1:p.Pro30=
NR_038373.1:n.175+3497C>T (DNAJC9-AS1)
XR_946059.1:n.120+206C>T
NM_016065.4:c.90G>A (MRPS16) MANE Select NP_057149.1:p.Pro30=