Canonical Allele Identifier: CA470285619
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1157234189
MyVariant Identifiers: chr10:g.75011606T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251848T>C , CM000672.2:g.73251848T>C GRCh38
NC_000010.10:g.75011606T>C , CM000672.1:g.75011606T>C GRCh37
NC_000010.9:g.74681612T>C NCBI36
NG_008096.1:g.5846A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.189A>G (MRPS16) MANE Select ENSP00000362036.3:p.Glu63=
ENST00000372940.3:c.189A>G (MRPS16) ENSP00000362031.3:p.Glu63=
ENST00000372945.7:c.189A>G (MRPS16) ENSP00000362036.3:p.Glu63=
ENST00000471251.5:n.322A>G (MRPS16)
ENST00000473427.1:n.279A>G (MRPS16)
ENST00000479005.1:n.346A>G (MRPS16)
NM_016065.3:c.189A>G (MRPS16) NP_057149.1:p.Glu63=
NR_038373.1:n.175+3398T>C (DNAJC9-AS1)
XR_946059.1:n.120+107T>C
NM_016065.4:c.189A>G (MRPS16) MANE Select NP_057149.1:p.Glu63=