Canonical Allele Identifier: CA9763604

Gene: MKKS

Linked Data

• ClinVar Variation Id: 860979
• ClinVar RCV Id: RCV001067388 ; RCV002497470 ; RCV002554518 ; RCV004545042
• dbSNP Id: rs199939179
• ExAC: 20:10393237 C / T
• gnomAD v2: 20-10393237-C-T
• gnomAD v3: 20-10412589-C-T
• gnomAD v4: 20-10412589-C-T
• MyVariant Identifiers: chr20:g.10393237C>T (hg19) ; chr20:g.10412589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412589C>T , CM000682.2:g.10412589C>T	GRCh38
NC_000020.10:g.10393237C>T , CM000682.1:g.10393237C>T	GRCh37
NC_000020.9:g.10341237C>T	NCBI36
NG_009109.1:g.26630G>A
NG_009109.2:g.26630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.926G>A	ENSP00000498849.1:p.Arg309His
ENST00000652676.1:n.570G>A
ENST00000347364.7:c.926G>A MANE Select	ENSP00000246062.4:p.Arg309His
ENST00000399054.6:c.926G>A	ENSP00000382008.2:p.Arg309His
NM_018848.3:c.926G>A	NP_061336.1:p.Arg309His
NM_170784.2:c.926G>A	NP_740754.1:p.Arg309His
NR_072977.1:n.364-3786G>A
NR_072977.2:n.347-3786G>A
NM_170784.3:c.926G>A MANE Select	NP_740754.1:p.Arg309His