Canonical Allele Identifier: CA408232796
Gene: MKKS HGNC NCBI

Linked Data

dbSNP Id: rs2064903421

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412935T>C , CM000682.2:g.10412935T>C GRCh38
NC_000020.10:g.10393583T>C , CM000682.1:g.10393583T>C GRCh37
NC_000020.9:g.10341583T>C NCBI36
NG_009109.1:g.26284A>G
NG_009109.2:g.26284A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.580A>G ENSP00000498849.1:p.Ile194Val
ENST00000652676.1:n.459-235A>G
ENST00000347364.7:c.580A>G MANE Select ENSP00000246062.4:p.Ile194Val
ENST00000399054.6:c.580A>G ENSP00000382008.2:p.Ile194Val
NM_018848.3:c.580A>G NP_061336.1:p.Ile194Val
NM_170784.2:c.580A>G NP_740754.1:p.Ile194Val
NR_072977.1:n.364-4132A>G
NR_072977.2:n.347-4132A>G
NM_170784.3:c.580A>G MANE Select NP_740754.1:p.Ile194Val