Canonical Allele Identifier: CA408232545
Gene: MKKS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412822T>G , CM000682.2:g.10412822T>G GRCh38
NC_000020.10:g.10393470T>G , CM000682.1:g.10393470T>G GRCh37
NC_000020.9:g.10341470T>G NCBI36
NG_009109.1:g.26397A>C
NG_009109.2:g.26397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.693A>C ENSP00000498849.1:p.Leu231Phe
ENST00000652676.1:n.459-122A>C
ENST00000347364.7:c.693A>C MANE Select ENSP00000246062.4:p.Leu231Phe
ENST00000399054.6:c.693A>C ENSP00000382008.2:p.Leu231Phe
NM_018848.3:c.693A>C NP_061336.1:p.Leu231Phe
NM_170784.2:c.693A>C NP_740754.1:p.Leu231Phe
NR_072977.1:n.364-4019A>C
NR_072977.2:n.347-4019A>C
NM_170784.3:c.693A>C MANE Select NP_740754.1:p.Leu231Phe