Canonical Allele Identifier: CA9763628
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 1597279
ClinVar RCV Id: RCV002127159
dbSNP Id: rs751761252
ExAC: 20:10393380 C / G
gnomAD v2: 20-10393380-C-G
gnomAD v3: 20-10412732-C-G
gnomAD v4: 20-10412732-C-G
MyVariant Identifiers: chr20:g.10393380C>G (hg19) chr20:g.10412732C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412732C>G , CM000682.2:g.10412732C>G GRCh38
NC_000020.10:g.10393380C>G , CM000682.1:g.10393380C>G GRCh37
NC_000020.9:g.10341380C>G NCBI36
NG_009109.1:g.26487G>C
NG_009109.2:g.26487G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.783G>C ENSP00000498849.1:p.Val261=
ENST00000652676.1:n.459-32G>C
ENST00000347364.7:c.783G>C MANE Select ENSP00000246062.4:p.Val261=
ENST00000399054.6:c.783G>C ENSP00000382008.2:p.Val261=
NM_018848.3:c.783G>C NP_061336.1:p.Val261=
NM_170784.2:c.783G>C NP_740754.1:p.Val261=
NR_072977.1:n.364-3929G>C
NR_072977.2:n.347-3929G>C
NM_170784.3:c.783G>C MANE Select NP_740754.1:p.Val261=
Search 100 bp 5'
Search 100 bp 3'