Canonical Allele Identifier: CA9763603

Gene: MKKS

Linked Data

• ClinVar Variation Id: 1969080
• ClinVar RCV Id: RCV002716986 ; RCV004545382
• dbSNP Id: rs375066177
• ExAC: 20:10393226 T / C
• gnomAD v2: 20-10393226-T-C
• gnomAD v3: 20-10412578-T-C
• gnomAD v4: 20-10412578-T-C
• MyVariant Identifiers: chr20:g.10393226T>C (hg19) ; chr20:g.10412578T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412578T>C , CM000682.2:g.10412578T>C	GRCh38
NC_000020.10:g.10393226T>C , CM000682.1:g.10393226T>C	GRCh37
NC_000020.9:g.10341226T>C	NCBI36
NG_009109.1:g.26641A>G
NG_009109.2:g.26641A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.937A>G	ENSP00000498849.1:p.Ile313Val
ENST00000652676.1:n.581A>G
ENST00000347364.7:c.937A>G MANE Select	ENSP00000246062.4:p.Ile313Val
ENST00000399054.6:c.937A>G	ENSP00000382008.2:p.Ile313Val
NM_018848.3:c.937A>G	NP_061336.1:p.Ile313Val
NM_170784.2:c.937A>G	NP_740754.1:p.Ile313Val
NR_072977.1:n.364-3775A>G
NR_072977.2:n.347-3775A>G
NM_170784.3:c.937A>G MANE Select	NP_740754.1:p.Ile313Val