Canonical Allele Identifier: CA509814958

Gene: MKKS

Linked Data

• ClinVar Variation Id: 3054729
• ClinVar RCV Id: RCV004540812
• MyVariant Identifiers: chr20:g.10393287C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412639C>T , CM000682.2:g.10412639C>T	GRCh38
NC_000020.10:g.10393287C>T , CM000682.1:g.10393287C>T	GRCh37
NC_000020.9:g.10341287C>T	NCBI36
NG_009109.1:g.26580G>A
NG_009109.2:g.26580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.876G>A	ENSP00000498849.1:p.Leu292=
ENST00000652676.1:n.520G>A
ENST00000347364.7:c.876G>A MANE Select	ENSP00000246062.4:p.Leu292=
ENST00000399054.6:c.876G>A	ENSP00000382008.2:p.Leu292=
NM_018848.3:c.876G>A	NP_061336.1:p.Leu292=
NM_170784.2:c.876G>A	NP_740754.1:p.Leu292=
NR_072977.1:n.364-3836G>A
NR_072977.2:n.347-3836G>A
NM_170784.3:c.876G>A MANE Select	NP_740754.1:p.Leu292=