Canonical Allele Identifier: CA9763604
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 860979
dbSNP Id: rs199939179

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