Canonical Allele Identifier: CA509814963

Gene: MKKS

Linked Data

• gnomAD v4: 20-10412642-G-A
• COSMIC: COSM3910851
• MyVariant Identifiers: chr20:g.10393290G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412642G>A , CM000682.2:g.10412642G>A	GRCh38
NC_000020.10:g.10393290G>A , CM000682.1:g.10393290G>A	GRCh37
NC_000020.9:g.10341290G>A	NCBI36
NG_009109.1:g.26577C>T
NG_009109.2:g.26577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.873C>T	ENSP00000498849.1:p.Val291=
ENST00000652676.1:n.517C>T
ENST00000347364.7:c.873C>T MANE Select	ENSP00000246062.4:p.Val291=
ENST00000399054.6:c.873C>T	ENSP00000382008.2:p.Val291=
NM_018848.3:c.873C>T	NP_061336.1:p.Val291=
NM_170784.2:c.873C>T	NP_740754.1:p.Val291=
NR_072977.1:n.364-3839C>T
NR_072977.2:n.347-3839C>T
NM_170784.3:c.873C>T MANE Select	NP_740754.1:p.Val291=