Canonical Allele Identifier: CA408232141

Gene: MKKS

Linked Data

• dbSNP Id: rs2064898392
• gnomAD v3: 20-10412629-C-A
• gnomAD v4: 20-10412629-C-A
• MyVariant Identifiers: chr20:g.10393277C>A (hg19) ; chr20:g.10412629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412629C>A , CM000682.2:g.10412629C>A	GRCh38
NC_000020.10:g.10393277C>A , CM000682.1:g.10393277C>A	GRCh37
NC_000020.9:g.10341277C>A	NCBI36
NG_009109.1:g.26590G>T
NG_009109.2:g.26590G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.886G>T	ENSP00000498849.1:p.Val296Phe
ENST00000652676.1:n.530G>T
ENST00000347364.7:c.886G>T MANE Select	ENSP00000246062.4:p.Val296Phe
ENST00000399054.6:c.886G>T	ENSP00000382008.2:p.Val296Phe
NM_018848.3:c.886G>T	NP_061336.1:p.Val296Phe
NM_170784.2:c.886G>T	NP_740754.1:p.Val296Phe
NR_072977.1:n.364-3826G>T
NR_072977.2:n.347-3826G>T
NM_170784.3:c.886G>T MANE Select	NP_740754.1:p.Val296Phe