Canonical Allele Identifier: CA509814892
Gene: MKKS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10393233A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412585A>G , CM000682.2:g.10412585A>G GRCh38
NC_000020.10:g.10393233A>G , CM000682.1:g.10393233A>G GRCh37
NC_000020.9:g.10341233A>G NCBI36
NG_009109.1:g.26634T>C
NG_009109.2:g.26634T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.930T>C ENSP00000498849.1:p.Ile310=
ENST00000652676.1:n.574T>C
ENST00000347364.7:c.930T>C MANE Select ENSP00000246062.4:p.Ile310=
ENST00000399054.6:c.930T>C ENSP00000382008.2:p.Ile310=
NM_018848.3:c.930T>C NP_061336.1:p.Ile310=
NM_170784.2:c.930T>C NP_740754.1:p.Ile310=
NR_072977.1:n.364-3782T>C
NR_072977.2:n.347-3782T>C
NM_170784.3:c.930T>C MANE Select NP_740754.1:p.Ile310=