Canonical Allele Identifier: CA768599

Gene: MRPS15

Linked Data

• ClinVar Variation Id: 2515580
• ClinVar RCV Id: RCV004296169
• dbSNP Id: rs201522148
• ExAC: 1:36921847 G / A
• gnomAD v2: 1-36921847-G-A
• gnomAD v3: 1-36456246-G-A
• gnomAD v4: 1-36456246-G-A
• COSMIC: COSM3689650
• MyVariant Identifiers: chr1:g.36921847G>A (hg19) ; chr1:g.36456246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36456246G>A , CM000663.2:g.36456246G>A	GRCh38
NC_000001.10:g.36921847G>A , CM000663.1:g.36921847G>A	GRCh37
NC_000001.9:g.36694434G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373116.6:c.577C>T MANE Select	ENSP00000362208.5:p.Pro193Ser
ENST00000373116.5:c.577C>T	ENSP00000362208.5:p.Pro193Ser
ENST00000462067.1:n.1401C>T
ENST00000477040.1:n.321C>T
ENST00000488606.5:n.1914C>T
NM_031280.3:c.577C>T	NP_112570.2:p.Pro193Ser
NM_031280.4:c.577C>T MANE Select	NP_112570.2:p.Pro193Ser