Canonical Allele Identifier: CA338007

Gene: MKKS

Linked Data

• ClinVar Variation Id: 215903
• ClinVar RCV Id: RCV000782192 ; RCV000990283 ; RCV001087733 ; RCV001137687 ; RCV001699063 ; RCV004528986
• dbSNP Id: rs149051148
• ExAC: 20:10386055 C / T
• gnomAD v2: 20-10386055-C-T
• gnomAD v3: 20-10405407-C-T
• gnomAD v4: 20-10405407-C-T
• MyVariant Identifiers: chr20:g.10386055C>T (hg19) ; chr20:g.10405407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10405407C>T , CM000682.2:g.10405407C>T	GRCh38
NC_000020.10:g.10386055C>T , CM000682.1:g.10386055C>T	GRCh37
NC_000020.9:g.10334055C>T	NCBI36
NG_009109.1:g.33812G>A
NG_009109.2:g.33812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.1553G>A	ENSP00000498849.1:p.Arg518His
ENST00000652676.1:n.1197G>A
ENST00000347364.7:c.1553G>A MANE Select	ENSP00000246062.4:p.Arg518His
ENST00000399054.6:c.1553G>A	ENSP00000382008.2:p.Arg518His
NM_018848.3:c.1553G>A	NP_061336.1:p.Arg518His
NM_170784.2:c.1553G>A	NP_740754.1:p.Arg518His
NR_072977.1:n.931G>A
NR_072977.2:n.914G>A
NM_170784.3:c.1553G>A MANE Select	NP_740754.1:p.Arg518His