Canonical Allele Identifier: CA509815247
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 2934974
ClinVar RCV Id: RCV003798676
dbSNP Id: rs1380420932
gnomAD v2: 20-10393616-A-G
gnomAD v3: 20-10412968-A-G
gnomAD v4: 20-10412968-A-G
MyVariant Identifiers: chr20:g.10393616A>G (hg19) chr20:g.10412968A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412968A>G , CM000682.2:g.10412968A>G GRCh38
NC_000020.10:g.10393616A>G , CM000682.1:g.10393616A>G GRCh37
NC_000020.9:g.10341616A>G NCBI36
NG_009109.1:g.26251T>C
NG_009109.2:g.26251T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.547T>C ENSP00000498849.1:p.Leu183=
ENST00000652676.1:n.459-268T>C
ENST00000347364.7:c.547T>C MANE Select ENSP00000246062.4:p.Leu183=
ENST00000399054.6:c.547T>C ENSP00000382008.2:p.Leu183=
NM_018848.3:c.547T>C NP_061336.1:p.Leu183=
NM_170784.2:c.547T>C NP_740754.1:p.Leu183=
NR_072977.1:n.364-4165T>C
NR_072977.2:n.347-4165T>C
NM_170784.3:c.547T>C MANE Select NP_740754.1:p.Leu183=
Search 100 bp 5'
Search 100 bp 3'