Canonical Allele Identifier: CA509815212
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 2179167
ClinVar RCV Id: RCV002591777
dbSNP Id: rs1387429421
MyVariant Identifiers: chr20:g.10393476C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412828C>T , CM000682.2:g.10412828C>T GRCh38
NC_000020.10:g.10393476C>T , CM000682.1:g.10393476C>T GRCh37
NC_000020.9:g.10341476C>T NCBI36
NG_009109.1:g.26391G>A
NG_009109.2:g.26391G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.687G>A ENSP00000498849.1:p.Arg229=
ENST00000652676.1:n.459-128G>A
ENST00000347364.7:c.687G>A MANE Select ENSP00000246062.4:p.Arg229=
ENST00000399054.6:c.687G>A ENSP00000382008.2:p.Arg229=
NM_018848.3:c.687G>A NP_061336.1:p.Arg229=
NM_170784.2:c.687G>A NP_740754.1:p.Arg229=
NR_072977.1:n.364-4025G>A
NR_072977.2:n.347-4025G>A
NM_170784.3:c.687G>A MANE Select NP_740754.1:p.Arg229=
Search 100 bp 5'
Search 100 bp 3'