Canonical Allele Identifier: CA470285544
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2044108616
MyVariant Identifiers: chr10:g.75011627T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251869T>C , CM000672.2:g.73251869T>C GRCh38
NC_000010.10:g.75011627T>C , CM000672.1:g.75011627T>C GRCh37
NC_000010.9:g.74681633T>C NCBI36
NG_008096.1:g.5825A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.168A>G (MRPS16) MANE Select ENSP00000362036.3:p.Pro56=
ENST00000372940.3:c.168A>G (MRPS16) ENSP00000362031.3:p.Pro56=
ENST00000372945.7:c.168A>G (MRPS16) ENSP00000362036.3:p.Pro56=
ENST00000471251.5:n.301A>G (MRPS16)
ENST00000473427.1:n.258A>G (MRPS16)
ENST00000479005.1:n.325A>G (MRPS16)
NM_016065.3:c.168A>G (MRPS16) NP_057149.1:p.Pro56=
NR_038373.1:n.175+3419T>C (DNAJC9-AS1)
XR_946059.1:n.120+128T>C
NM_016065.4:c.168A>G (MRPS16) MANE Select NP_057149.1:p.Pro56=