Canonical Allele Identifier: CA377193039

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs1427612719
• gnomAD v3: 10-73251841-C-T
• gnomAD v4: 10-73251841-C-T
• MyVariant Identifiers: chr10:g.75011599C>T (hg19) ; chr10:g.73251841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251841C>T , CM000672.2:g.73251841C>T	GRCh38
NC_000010.10:g.75011599C>T , CM000672.1:g.75011599C>T	GRCh37
NC_000010.9:g.74681605C>T	NCBI36
NG_008096.1:g.5853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.196G>A (MRPS16) MANE Select	ENSP00000362036.3:p.Val66Ile
ENST00000372940.3:c.196G>A (MRPS16)	ENSP00000362031.3:p.Val66Ile
ENST00000372945.7:c.196G>A (MRPS16)	ENSP00000362036.3:p.Val66Ile
ENST00000471251.5:n.329G>A (MRPS16)
ENST00000473427.1:n.286G>A (MRPS16)
ENST00000479005.1:n.353G>A (MRPS16)
NM_016065.3:c.196G>A (MRPS16)	NP_057149.1:p.Val66Ile
NR_038373.1:n.175+3391C>T (DNAJC9-AS1)
XR_946059.1:n.120+100C>T
NM_016065.4:c.196G>A (MRPS16) MANE Select	NP_057149.1:p.Val66Ile