Canonical Allele Identifier: CA243463
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 5314
ClinVar RCV Id: RCV001267056 RCV001851675 RCV003230348 RCV003415659 RCV003987313
dbSNP Id: rs74315398
ExAC: 20:10393333 A / G
gnomAD v2: 20-10393333-A-G
gnomAD v3: 20-10412685-A-G
gnomAD v4: 20-10412685-A-G
MyVariant Identifiers: chr20:g.10393333A>G (hg19) chr20:g.10412685A>G (hg38)
PubMed: PMID:11341887 PMID:15637713
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412685A>G , CM000682.2:g.10412685A>G GRCh38
NC_000020.10:g.10393333A>G , CM000682.1:g.10393333A>G GRCh37
NC_000020.9:g.10341333A>G NCBI36
NG_009109.1:g.26534T>C
NG_009109.2:g.26534T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651692.1:c.830T>C ENSP00000498849.1:p.Leu277Pro
ENST00000652676.1:n.474T>C
ENST00000347364.7:c.830T>C MANE Select ENSP00000246062.4:p.Leu277Pro
ENST00000399054.6:c.830T>C ENSP00000382008.2:p.Leu277Pro
NM_018848.3:c.830T>C NP_061336.1:p.Leu277Pro
NM_170784.2:c.830T>C NP_740754.1:p.Leu277Pro
NR_072977.1:n.364-3882T>C
NR_072977.2:n.347-3882T>C
NM_170784.3:c.830T>C MANE Select NP_740754.1:p.Leu277Pro
Search 100 bp 5'
Search 100 bp 3'