Canonical Allele Identifier: CA9763609
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 337691
ClinVar RCV Id: RCV000284972 RCV000341367 RCV004544630 RCV002057725
dbSNP Id: rs758645426
ExAC: 20:10393289 G / A
gnomAD v2: 20-10393289-G-A
gnomAD v3: 20-10412641-G-A
gnomAD v4: 20-10412641-G-A
MyVariant Identifiers: chr20:g.10393289G>A (hg19) chr20:g.10412641G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412641G>A , CM000682.2:g.10412641G>A GRCh38
NC_000020.10:g.10393289G>A , CM000682.1:g.10393289G>A GRCh37
NC_000020.9:g.10341289G>A NCBI36
NG_009109.1:g.26578C>T
NG_009109.2:g.26578C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.874C>T ENSP00000498849.1:p.Leu292=
ENST00000652676.1:n.518C>T
ENST00000347364.7:c.874C>T MANE Select ENSP00000246062.4:p.Leu292=
ENST00000399054.6:c.874C>T ENSP00000382008.2:p.Leu292=
NM_018848.3:c.874C>T NP_061336.1:p.Leu292=
NM_170784.2:c.874C>T NP_740754.1:p.Leu292=
NR_072977.1:n.364-3838C>T
NR_072977.2:n.347-3838C>T
NM_170784.3:c.874C>T MANE Select NP_740754.1:p.Leu292=
Search 100 bp 5'
Search 100 bp 3'