Canonical Allele Identifier: CA408232827
Gene: MKKS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412949T>A , CM000682.2:g.10412949T>A GRCh38
NC_000020.10:g.10393597T>A , CM000682.1:g.10393597T>A GRCh37
NC_000020.9:g.10341597T>A NCBI36
NG_009109.1:g.26270A>T
NG_009109.2:g.26270A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.566A>T ENSP00000498849.1:p.Asn189Ile
ENST00000652676.1:n.459-249A>T
ENST00000347364.7:c.566A>T MANE Select ENSP00000246062.4:p.Asn189Ile
ENST00000399054.6:c.566A>T ENSP00000382008.2:p.Asn189Ile
NM_018848.3:c.566A>T NP_061336.1:p.Asn189Ile
NM_170784.2:c.566A>T NP_740754.1:p.Asn189Ile
NR_072977.1:n.364-4146A>T
NR_072977.2:n.347-4146A>T
NM_170784.3:c.566A>T MANE Select NP_740754.1:p.Asn189Ile