Canonical Allele Identifier: CA9763520
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 337690
dbSNP Id: rs144313303

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10407619G>A , CM000682.2:g.10407619G>A GRCh38
NC_000020.10:g.10388267G>A , CM000682.1:g.10388267G>A GRCh37
NC_000020.9:g.10336267G>A NCBI36
NG_009109.1:g.31600C>T
NG_009109.2:g.31600C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.1269C>T ENSP00000498849.1:p.His423=
ENST00000652676.1:n.913C>T
ENST00000347364.7:c.1269C>T MANE Select ENSP00000246062.4:p.His423=
ENST00000399054.6:c.1269C>T ENSP00000382008.2:p.His423=
NM_018848.3:c.1269C>T NP_061336.1:p.His423=
NM_170784.2:c.1269C>T NP_740754.1:p.His423=
NR_072977.1:n.647C>T
NR_072977.2:n.630C>T
NM_170784.3:c.1269C>T MANE Select NP_740754.1:p.His423=