Canonical Allele Identifier: CA377193035

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs1589211214
• gnomAD v4: 10-73251840-A-G
• MyVariant Identifiers: chr10:g.75011598A>G (hg19) ; chr10:g.73251840A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251840A>G , CM000672.2:g.73251840A>G	GRCh38
NC_000010.10:g.75011598A>G , CM000672.1:g.75011598A>G	GRCh37
NC_000010.9:g.74681604A>G	NCBI36
NG_008096.1:g.5854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.197T>C (MRPS16) MANE Select	ENSP00000362036.3:p.Val66Ala
ENST00000372940.3:c.197T>C (MRPS16)	ENSP00000362031.3:p.Val66Ala
ENST00000372945.7:c.197T>C (MRPS16)	ENSP00000362036.3:p.Val66Ala
ENST00000471251.5:n.330T>C (MRPS16)
ENST00000473427.1:n.287T>C (MRPS16)
ENST00000479005.1:n.354T>C (MRPS16)
NM_016065.3:c.197T>C (MRPS16)	NP_057149.1:p.Val66Ala
NR_038373.1:n.175+3390A>G (DNAJC9-AS1)
XR_946059.1:n.120+99A>G
NM_016065.4:c.197T>C (MRPS16) MANE Select	NP_057149.1:p.Val66Ala