Canonical Allele Identifier: CA509815195

Gene: MKKS

Linked Data

• ClinVar Variation Id: 1100171
• ClinVar RCV Id: RCV001422687
• dbSNP Id: rs2064903385
• MyVariant Identifiers: chr20:g.10393581G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412933G>T , CM000682.2:g.10412933G>T	GRCh38
NC_000020.10:g.10393581G>T , CM000682.1:g.10393581G>T	GRCh37
NC_000020.9:g.10341581G>T	NCBI36
NG_009109.1:g.26286C>A
NG_009109.2:g.26286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.582C>A	ENSP00000498849.1:p.Ile194=
ENST00000652676.1:n.459-233C>A
ENST00000347364.7:c.582C>A MANE Select	ENSP00000246062.4:p.Ile194=
ENST00000399054.6:c.582C>A	ENSP00000382008.2:p.Ile194=
NM_018848.3:c.582C>A	NP_061336.1:p.Ile194=
NM_170784.2:c.582C>A	NP_740754.1:p.Ile194=
NR_072977.1:n.364-4130C>A
NR_072977.2:n.347-4130C>A
NM_170784.3:c.582C>A MANE Select	NP_740754.1:p.Ile194=