Canonical Allele Identifier: CA9113216

Gene: MICOS13 RPL36

Linked Data

• ClinVar Variation Id: 1682905
• ClinVar RCV Id: RCV002239996
• dbSNP Id: rs750723881
• ExAC: 19:5678674 C / T
• gnomAD v2: 19-5678674-C-T
• gnomAD v3: 19-5678663-C-T
• gnomAD v4: 19-5678663-C-T
• COSMIC: COSN19768977
• MyVariant Identifiers: chr19:g.5678674C>T (hg19) ; chr19:g.5678663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5678663C>T , CM000681.2:g.5678663C>T	GRCh38
NC_000019.9:g.5678674C>T , CM000681.1:g.5678674C>T	GRCh37
NC_000019.8:g.5629674C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309324.9:c.260-15G>A (MICOS13) MANE Select	ENSP00000309561.3:n.260-15G>A
ENST00000309324.8:c.260-15G>A (MICOS13)	ENSP00000309561.3:n.260-15G>A
ENST00000579649.5:c.-60+3691C>T (RPL36)	ENSP00000462609.1:n.-60+3691C>T
ENST00000585605.1:n.359-15G>A (MICOS13)
ENST00000587950.5:c.326-15G>A (MICOS13)	ENSP00000468723.1:n.326-15G>A
NM_001308240.1:c.326-15G>A (MICOS13)	NP_001295169.1:n.326-15G>A
NM_205767.1:c.260-15G>A (MICOS13)	NP_991330.1:n.260-15G>A
NM_205767.2:c.260-15G>A (MICOS13)	NP_991330.1:n.260-15G>A
NM_001365761.1:c.326-15G>A (MICOS13)	NP_001352690.1:n.326-15G>A
NM_001308240.2:c.326-15G>A (MICOS13)	NP_001295169.1:n.326-15G>A
NM_001365761.2:c.326-15G>A (MICOS13)	NP_001352690.1:n.326-15G>A
NM_205767.3:c.260-15G>A (MICOS13) MANE Select	NP_991330.1:n.260-15G>A