Canonical Allele Identifier: CA408232476
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 1047588
ClinVar RCV Id: RCV001352323
dbSNP Id: rs2064900976

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412788G>A , CM000682.2:g.10412788G>A GRCh38
NC_000020.10:g.10393436G>A , CM000682.1:g.10393436G>A GRCh37
NC_000020.9:g.10341436G>A NCBI36
NG_009109.1:g.26431C>T
NG_009109.2:g.26431C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.727C>T ENSP00000498849.1:p.Leu243Phe
ENST00000652676.1:n.459-88C>T
ENST00000347364.7:c.727C>T MANE Select ENSP00000246062.4:p.Leu243Phe
ENST00000399054.6:c.727C>T ENSP00000382008.2:p.Leu243Phe
NM_018848.3:c.727C>T NP_061336.1:p.Leu243Phe
NM_170784.2:c.727C>T NP_740754.1:p.Leu243Phe
NR_072977.1:n.364-3985C>T
NR_072977.2:n.347-3985C>T
NM_170784.3:c.727C>T MANE Select NP_740754.1:p.Leu243Phe