Canonical Allele Identifier: CA408232825
Gene: MKKS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412948A>C , CM000682.2:g.10412948A>C GRCh38
NC_000020.10:g.10393596A>C , CM000682.1:g.10393596A>C GRCh37
NC_000020.9:g.10341596A>C NCBI36
NG_009109.1:g.26271T>G
NG_009109.2:g.26271T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.567T>G ENSP00000498849.1:p.Asn189Lys
ENST00000652676.1:n.459-248T>G
ENST00000347364.7:c.567T>G MANE Select ENSP00000246062.4:p.Asn189Lys
ENST00000399054.6:c.567T>G ENSP00000382008.2:p.Asn189Lys
NM_018848.3:c.567T>G NP_061336.1:p.Asn189Lys
NM_170784.2:c.567T>G NP_740754.1:p.Asn189Lys
NR_072977.1:n.364-4145T>G
NR_072977.2:n.347-4145T>G
NM_170784.3:c.567T>G MANE Select NP_740754.1:p.Asn189Lys