Canonical Allele Identifier: CA253464

Gene: MKKS

Linked Data

• ClinVar Variation Id: 5316
• ClinVar RCV Id: RCV000005641 ; RCV000990288 ; RCV001376920 ; RCV002307354
• dbSNP Id: rs74315399
• ExAC: 20:10393994 T / C
• gnomAD v2: 20-10393994-T-C
• gnomAD v3: 20-10413346-T-C
• gnomAD v4: 20-10413346-T-C
• COSMIC: COSM5956899
• MyVariant Identifiers: chr20:g.10393994T>C (hg19) ; chr20:g.10413346T>C (hg38)
• PubMed: PMID:11341887 ; PMID:22446187

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10413346T>C , CM000682.2:g.10413346T>C	GRCh38
NC_000020.10:g.10393994T>C , CM000682.1:g.10393994T>C	GRCh37
NC_000020.9:g.10341994T>C	NCBI36
NG_009109.1:g.25873A>G
NG_009109.2:g.25873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.169A>G	ENSP00000498849.1:p.Thr57Ala
ENST00000652676.1:n.458+450A>G
ENST00000347364.7:c.169A>G MANE Select	ENSP00000246062.4:p.Thr57Ala
ENST00000399054.6:c.169A>G	ENSP00000382008.2:p.Thr57Ala
NM_018848.3:c.169A>G	NP_061336.1:p.Thr57Ala
NM_170784.2:c.169A>G	NP_740754.1:p.Thr57Ala
NR_072977.1:n.364-4543A>G
NR_072977.2:n.347-4543A>G
NM_170784.3:c.169A>G MANE Select	NP_740754.1:p.Thr57Ala