Canonical Allele Identifier: CA090940

Gene: MKKS

Linked Data

• ClinVar Variation Id: 167303
• ClinVar RCV Id: RCV000153503 ; RCV000436285 ; RCV000990285 ; RCV001084541
• dbSNP Id: rs74315394
• ExAC: 20:10393439 C / A
• gnomAD v2: 20-10393439-C-A
• gnomAD v3: 20-10412791-C-A
• gnomAD v4: 20-10412791-C-A
• MyVariant Identifiers: chr20:g.10393439C>A (hg19) ; chr20:g.10412791C>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412791C>A , CM000682.2:g.10412791C>A	GRCh38
NC_000020.10:g.10393439C>A , CM000682.1:g.10393439C>A	GRCh37
NC_000020.9:g.10341439C>A	NCBI36
NG_009109.1:g.26428G>T
NG_009109.2:g.26428G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.724G>T	ENSP00000498849.1:p.Ala242Ser
ENST00000652676.1:n.459-91G>T
ENST00000347364.7:c.724G>T MANE Select	ENSP00000246062.4:p.Ala242Ser
ENST00000399054.6:c.724G>T	ENSP00000382008.2:p.Ala242Ser
NM_018848.3:c.724G>T	NP_061336.1:p.Ala242Ser
NM_170784.2:c.724G>T	NP_740754.1:p.Ala242Ser
NR_072977.1:n.364-3988G>T
NR_072977.2:n.347-3988G>T
NM_170784.3:c.724G>T MANE Select	NP_740754.1:p.Ala242Ser