Canonical Allele Identifier: CA2349780821
Gene: MKKS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412800G= , CM000682.2:g.10412800G= GRCh38
NC_000020.10:g.10393448G= , CM000682.1:g.10393448G= GRCh37
NC_000020.9:g.10341448G= NCBI36
NG_009109.1:g.26419C=
NG_009109.2:g.26419C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.715C= ENSP00000498849.1:p.Leu239=
ENST00000652676.1:n.459-100C=
ENST00000347364.7:c.715C= MANE Select ENSP00000246062.4:p.Leu239=
ENST00000399054.6:c.715C= ENSP00000382008.2:p.Leu239=
NM_018848.3:c.715C= NP_061336.1:p.Leu239=
NM_170784.2:c.715C= NP_740754.1:p.Leu239=
NR_072977.1:n.364-3997C=
NR_072977.2:n.347-3997C=
NM_170784.3:c.715C= MANE Select NP_740754.1:p.Leu239=