Canonical Allele Identifier: CA253459

Gene: MKKS

Linked Data

• ClinVar Variation Id: 5311
• ClinVar RCV Id: RCV000005636 ; RCV001851674 ; RCV002222342
• dbSNP Id: rs28937875
• ExAC: 20:10394008 C / T
• gnomAD v2: 20-10394008-C-T
• gnomAD v4: 20-10413360-C-T
• MyVariant Identifiers: chr20:g.10394008C>T (hg19) ; chr20:g.10413360C>T (hg38)
• PubMed: PMID:22446187

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10413360C>T , CM000682.2:g.10413360C>T	GRCh38
NC_000020.10:g.10394008C>T , CM000682.1:g.10394008C>T	GRCh37
NC_000020.9:g.10342008C>T	NCBI36
NG_009109.1:g.25859G>A
NG_009109.2:g.25859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.155G>A	ENSP00000498849.1:p.Gly52Asp
ENST00000652676.1:n.458+436G>A
ENST00000347364.7:c.155G>A MANE Select	ENSP00000246062.4:p.Gly52Asp
ENST00000399054.6:c.155G>A	ENSP00000382008.2:p.Gly52Asp
NM_018848.3:c.155G>A	NP_061336.1:p.Gly52Asp
NM_170784.2:c.155G>A	NP_740754.1:p.Gly52Asp
NR_072977.1:n.364-4557G>A
NR_072977.2:n.347-4557G>A
NM_170784.3:c.155G>A MANE Select	NP_740754.1:p.Gly52Asp