Canonical Allele Identifier: CA408232804
Gene: MKKS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412938G>T , CM000682.2:g.10412938G>T GRCh38
NC_000020.10:g.10393586G>T , CM000682.1:g.10393586G>T GRCh37
NC_000020.9:g.10341586G>T NCBI36
NG_009109.1:g.26281C>A
NG_009109.2:g.26281C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.577C>A ENSP00000498849.1:p.His193Asn
ENST00000652676.1:n.459-238C>A
ENST00000347364.7:c.577C>A MANE Select ENSP00000246062.4:p.His193Asn
ENST00000399054.6:c.577C>A ENSP00000382008.2:p.His193Asn
NM_018848.3:c.577C>A NP_061336.1:p.His193Asn
NM_170784.2:c.577C>A NP_740754.1:p.His193Asn
NR_072977.1:n.364-4135C>A
NR_072977.2:n.347-4135C>A
NM_170784.3:c.577C>A MANE Select NP_740754.1:p.His193Asn