Canonical Allele Identifier: CA408232486
Gene: MKKS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412794C>G , CM000682.2:g.10412794C>G GRCh38
NC_000020.10:g.10393442C>G , CM000682.1:g.10393442C>G GRCh37
NC_000020.9:g.10341442C>G NCBI36
NG_009109.1:g.26425G>C
NG_009109.2:g.26425G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.721G>C ENSP00000498849.1:p.Val241Leu
ENST00000652676.1:n.459-94G>C
ENST00000347364.7:c.721G>C MANE Select ENSP00000246062.4:p.Val241Leu
ENST00000399054.6:c.721G>C ENSP00000382008.2:p.Val241Leu
NM_018848.3:c.721G>C NP_061336.1:p.Val241Leu
NM_170784.2:c.721G>C NP_740754.1:p.Val241Leu
NR_072977.1:n.364-3991G>C
NR_072977.2:n.347-3991G>C
NM_170784.3:c.721G>C MANE Select NP_740754.1:p.Val241Leu