Canonical Allele Identifier: CA509661431
Gene: MKKS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10393224T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412576T>G , CM000682.2:g.10412576T>G GRCh38
NC_000020.10:g.10393224T>G , CM000682.1:g.10393224T>G GRCh37
NC_000020.9:g.10341224T>G NCBI36
NG_009109.1:g.26643A>C
NG_009109.2:g.26643A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.939A>C ENSP00000498849.1:p.Ile313=
ENST00000652676.1:n.583A>C
ENST00000347364.7:c.939A>C MANE Select ENSP00000246062.4:p.Ile313=
ENST00000399054.6:c.939A>C ENSP00000382008.2:p.Ile313=
NM_018848.3:c.939A>C NP_061336.1:p.Ile313=
NM_170784.2:c.939A>C NP_740754.1:p.Ile313=
NR_072977.1:n.364-3773A>C
NR_072977.2:n.347-3773A>C
NM_170784.3:c.939A>C MANE Select NP_740754.1:p.Ile313=