Canonical Allele Identifier: CA9763553

Gene: MKKS

Linked Data

• ClinVar Variation Id: 499577
• ClinVar RCV Id: RCV000593873 ; RCV001222609 ; RCV002532471 ; RCV004530686
• dbSNP Id: rs761886025
• ExAC: 20:10389272 C / T
• gnomAD v2: 20-10389272-C-T
• gnomAD v3: 20-10408624-C-T
• gnomAD v4: 20-10408624-C-T
• MyVariant Identifiers: chr20:g.10389272C>T (hg19) ; chr20:g.10408624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10408624C>T , CM000682.2:g.10408624C>T	GRCh38
NC_000020.10:g.10389272C>T , CM000682.1:g.10389272C>T	GRCh37
NC_000020.9:g.10337272C>T	NCBI36
NG_009109.1:g.30595G>A
NG_009109.2:g.30595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.1161+4G>A	ENSP00000498849.1:n.1161+4G>A
ENST00000652676.1:n.805+4G>A
ENST00000347364.7:c.1161+4G>A MANE Select	ENSP00000246062.4:n.1161+4G>A
ENST00000399054.6:c.1161+4G>A	ENSP00000382008.2:n.1161+4G>A
NM_018848.3:c.1161+4G>A	NP_061336.1:n.1161+4G>A
NM_170784.2:c.1161+4G>A	NP_740754.1:n.1161+4G>A
NR_072977.1:n.539+4G>A
NR_072977.2:n.522+4G>A
NM_170784.3:c.1161+4G>A MANE Select	NP_740754.1:n.1161+4G>A