Canonical Allele Identifier: CA200249

Gene: MKKS

Linked Data

• ClinVar Variation Id: 100586
• ClinVar RCV Id: RCV000086969 ; RCV000173033 ; RCV000585746 ; RCV000677321 ; RCV001083442
• dbSNP Id: rs137853909
• ExAC: 20:10389422 T / C
• gnomAD v2: 20-10389422-T-C
• gnomAD v3: 20-10408774-T-C
• gnomAD v4: 20-10408774-T-C
• MyVariant Identifiers: chr20:g.10389422T>C (hg19) ; chr20:g.10408774T>C (hg38)
• PubMed: PMID:23891399 ; PMID:29127258

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10408774T>C , CM000682.2:g.10408774T>C	GRCh38
NC_000020.10:g.10389422T>C , CM000682.1:g.10389422T>C	GRCh37
NC_000020.9:g.10337422T>C	NCBI36
NG_009109.1:g.30445A>G
NG_009109.2:g.30445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.1015A>G	ENSP00000498849.1:p.Ile339Val
ENST00000652676.1:n.659A>G
ENST00000347364.7:c.1015A>G MANE Select	ENSP00000246062.4:p.Ile339Val
ENST00000399054.6:c.1015A>G	ENSP00000382008.2:p.Ile339Val
NM_018848.3:c.1015A>G	NP_061336.1:p.Ile339Val
NM_170784.2:c.1015A>G	NP_740754.1:p.Ile339Val
NR_072977.1:n.393A>G
NR_072977.2:n.376A>G
NM_170784.3:c.1015A>G MANE Select	NP_740754.1:p.Ile339Val