Canonical Allele Identifier: CA509815090
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 2932715
ClinVar RCV Id: RCV003797881
dbSNP Id: rs2064902182
gnomAD v3: 20-10412867-A-T
gnomAD v4: 20-10412867-A-T
MyVariant Identifiers: chr20:g.10393515A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412867A>T , CM000682.2:g.10412867A>T GRCh38
NC_000020.10:g.10393515A>T , CM000682.1:g.10393515A>T GRCh37
NC_000020.9:g.10341515A>T NCBI36
NG_009109.1:g.26352T>A
NG_009109.2:g.26352T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.648T>A ENSP00000498849.1:p.Pro216=
ENST00000652676.1:n.459-167T>A
ENST00000347364.7:c.648T>A MANE Select ENSP00000246062.4:p.Pro216=
ENST00000399054.6:c.648T>A ENSP00000382008.2:p.Pro216=
NM_018848.3:c.648T>A NP_061336.1:p.Pro216=
NM_170784.2:c.648T>A NP_740754.1:p.Pro216=
NR_072977.1:n.364-4064T>A
NR_072977.2:n.347-4064T>A
NM_170784.3:c.648T>A MANE Select NP_740754.1:p.Pro216=
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