Canonical Allele Identifier: CA408232885
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 1042903
ClinVar RCV Id: RCV001346927
dbSNP Id: rs1215659134

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412974C>T , CM000682.2:g.10412974C>T GRCh38
NC_000020.10:g.10393622C>T , CM000682.1:g.10393622C>T GRCh37
NC_000020.9:g.10341622C>T NCBI36
NG_009109.1:g.26245G>A
NG_009109.2:g.26245G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.541G>A ENSP00000498849.1:p.Ala181Thr
ENST00000652676.1:n.459-274G>A
ENST00000347364.7:c.541G>A MANE Select ENSP00000246062.4:p.Ala181Thr
ENST00000399054.6:c.541G>A ENSP00000382008.2:p.Ala181Thr
NM_018848.3:c.541G>A NP_061336.1:p.Ala181Thr
NM_170784.2:c.541G>A NP_740754.1:p.Ala181Thr
NR_072977.1:n.364-4171G>A
NR_072977.2:n.347-4171G>A
NM_170784.3:c.541G>A MANE Select NP_740754.1:p.Ala181Thr