Canonical Allele Identifier: CA377193389

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs1298697205
• gnomAD v2: 10-75011731-C-T
• gnomAD v4: 10-73251973-C-T
• MyVariant Identifiers: chr10:g.75011731C>T (hg19) ; chr10:g.73251973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251973C>T , CM000672.2:g.73251973C>T	GRCh38
NC_000010.10:g.75011731C>T , CM000672.1:g.75011731C>T	GRCh37
NC_000010.9:g.74681737C>T	NCBI36
NG_008096.1:g.5721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.64G>A (MRPS16) MANE Select	ENSP00000362036.3:p.Ala22Thr
ENST00000372940.3:c.64G>A (MRPS16)	ENSP00000362031.3:p.Ala22Thr
ENST00000372945.7:c.64G>A (MRPS16)	ENSP00000362036.3:p.Ala22Thr
ENST00000471251.5:n.197G>A (MRPS16)
ENST00000473427.1:n.154G>A (MRPS16)
ENST00000479005.1:n.221G>A (MRPS16)
NM_016065.3:c.64G>A (MRPS16)	NP_057149.1:p.Ala22Thr
NR_038373.1:n.175+3523C>T (DNAJC9-AS1)
XR_946059.1:n.120+232C>T
NM_016065.4:c.64G>A (MRPS16) MANE Select	NP_057149.1:p.Ala22Thr