Canonical Allele Identifier: CA403541282

Gene: MICOS13 RPL36

Linked Data

• ClinVar Variation Id: 3126313
• ClinVar RCV Id: RCV004419703
• MyVariant Identifiers: chr19:g.5678605T>C (hg19) ; chr19:g.5678594T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5678594T>C , CM000681.2:g.5678594T>C	GRCh38
NC_000019.9:g.5678605T>C , CM000681.1:g.5678605T>C	GRCh37
NC_000019.8:g.5629605T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309324.9:c.314A>G (MICOS13) MANE Select	ENSP00000309561.3:p.Tyr105Cys
ENST00000309324.8:c.314A>G (MICOS13)	ENSP00000309561.3:p.Tyr105Cys
ENST00000579649.5:c.-60+3622T>C (RPL36)	ENSP00000462609.1:n.-60+3622T>C
ENST00000585605.1:n.413A>G (MICOS13)
ENST00000587950.5:c.380A>G (MICOS13)	ENSP00000468723.1:p.Tyr127Cys
NM_001308240.1:c.380A>G (MICOS13)	NP_001295169.1:p.Tyr127Cys
NM_205767.1:c.314A>G (MICOS13)	NP_991330.1:p.Tyr105Cys
NM_205767.2:c.314A>G (MICOS13)	NP_991330.1:p.Tyr105Cys
NM_001365761.1:c.380A>G (MICOS13)	NP_001352690.1:p.Tyr127Cys
NM_001308240.2:c.380A>G (MICOS13)	NP_001295169.1:p.Tyr127Cys
NM_001365761.2:c.380A>G (MICOS13)	NP_001352690.1:p.Tyr127Cys
NM_205767.3:c.314A>G (MICOS13) MANE Select	NP_991330.1:p.Tyr105Cys