Canonical Allele Identifier: CA377193090

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs2044108187
• gnomAD v3: 10-73251864-G-A
• gnomAD v4: 10-73251864-G-A
• MyVariant Identifiers: chr10:g.75011622G>A (hg19) ; chr10:g.73251864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251864G>A , CM000672.2:g.73251864G>A	GRCh38
NC_000010.10:g.75011622G>A , CM000672.1:g.75011622G>A	GRCh37
NC_000010.9:g.74681628G>A	NCBI36
NG_008096.1:g.5830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.173C>T (MRPS16) MANE Select	ENSP00000362036.3:p.Pro58Leu
ENST00000372940.3:c.173C>T (MRPS16)	ENSP00000362031.3:p.Pro58Leu
ENST00000372945.7:c.173C>T (MRPS16)	ENSP00000362036.3:p.Pro58Leu
ENST00000471251.5:n.306C>T (MRPS16)
ENST00000473427.1:n.263C>T (MRPS16)
ENST00000479005.1:n.330C>T (MRPS16)
NM_016065.3:c.173C>T (MRPS16)	NP_057149.1:p.Pro58Leu
NR_038373.1:n.175+3414G>A (DNAJC9-AS1)
XR_946059.1:n.120+123G>A
NM_016065.4:c.173C>T (MRPS16) MANE Select	NP_057149.1:p.Pro58Leu