Canonical Allele Identifier: CA408232770
Gene: MKKS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412923T>G , CM000682.2:g.10412923T>G GRCh38
NC_000020.10:g.10393571T>G , CM000682.1:g.10393571T>G GRCh37
NC_000020.9:g.10341571T>G NCBI36
NG_009109.1:g.26296A>C
NG_009109.2:g.26296A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.592A>C ENSP00000498849.1:p.Lys198Gln
ENST00000652676.1:n.459-223A>C
ENST00000347364.7:c.592A>C MANE Select ENSP00000246062.4:p.Lys198Gln
ENST00000399054.6:c.592A>C ENSP00000382008.2:p.Lys198Gln
NM_018848.3:c.592A>C NP_061336.1:p.Lys198Gln
NM_170784.2:c.592A>C NP_740754.1:p.Lys198Gln
NR_072977.1:n.364-4120A>C
NR_072977.2:n.347-4120A>C
NM_170784.3:c.592A>C MANE Select NP_740754.1:p.Lys198Gln