Canonical Allele Identifier: CA408232799
Gene: MKKS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412937T>A , CM000682.2:g.10412937T>A GRCh38
NC_000020.10:g.10393585T>A , CM000682.1:g.10393585T>A GRCh37
NC_000020.9:g.10341585T>A NCBI36
NG_009109.1:g.26282A>T
NG_009109.2:g.26282A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.578A>T ENSP00000498849.1:p.His193Leu
ENST00000652676.1:n.459-237A>T
ENST00000347364.7:c.578A>T MANE Select ENSP00000246062.4:p.His193Leu
ENST00000399054.6:c.578A>T ENSP00000382008.2:p.His193Leu
NM_018848.3:c.578A>T NP_061336.1:p.His193Leu
NM_170784.2:c.578A>T NP_740754.1:p.His193Leu
NR_072977.1:n.364-4134A>T
NR_072977.2:n.347-4134A>T
NM_170784.3:c.578A>T MANE Select NP_740754.1:p.His193Leu