Canonical Allele Identifier: CA9763633

Gene: MKKS

Linked Data

• ClinVar Variation Id: 463179
• ClinVar RCV Id: RCV000530180 ; RCV001142559 ; RCV001081965 ; RCV001142558 ; RCV004541679
• dbSNP Id: rs201785599
• ExAC: 20:10393406 A / G
• gnomAD v2: 20-10393406-A-G
• gnomAD v3: 20-10412758-A-G
• gnomAD v4: 20-10412758-A-G
• MyVariant Identifiers: chr20:g.10393406A>G (hg19) ; chr20:g.10412758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412758A>G , CM000682.2:g.10412758A>G	GRCh38
NC_000020.10:g.10393406A>G , CM000682.1:g.10393406A>G	GRCh37
NC_000020.9:g.10341406A>G	NCBI36
NG_009109.1:g.26461T>C
NG_009109.2:g.26461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.757T>C	ENSP00000498849.1:p.Ser253Pro
ENST00000652676.1:n.459-58T>C
ENST00000347364.7:c.757T>C MANE Select	ENSP00000246062.4:p.Ser253Pro
ENST00000399054.6:c.757T>C	ENSP00000382008.2:p.Ser253Pro
NM_018848.3:c.757T>C	NP_061336.1:p.Ser253Pro
NM_170784.2:c.757T>C	NP_740754.1:p.Ser253Pro
NR_072977.1:n.364-3955T>C
NR_072977.2:n.347-3955T>C
NM_170784.3:c.757T>C MANE Select	NP_740754.1:p.Ser253Pro