Canonical Allele Identifier: CA408232819

Gene: MKKS

Linked Data

• gnomAD v4: 20-10412946-G-A
• MyVariant Identifiers: chr20:g.10393594G>A (hg19) ; chr20:g.10412946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412946G>A , CM000682.2:g.10412946G>A	GRCh38
NC_000020.10:g.10393594G>A , CM000682.1:g.10393594G>A	GRCh37
NC_000020.9:g.10341594G>A	NCBI36
NG_009109.1:g.26273C>T
NG_009109.2:g.26273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.569C>T	ENSP00000498849.1:p.Ala190Val
ENST00000652676.1:n.459-246C>T
ENST00000347364.7:c.569C>T MANE Select	ENSP00000246062.4:p.Ala190Val
ENST00000399054.6:c.569C>T	ENSP00000382008.2:p.Ala190Val
NM_018848.3:c.569C>T	NP_061336.1:p.Ala190Val
NM_170784.2:c.569C>T	NP_740754.1:p.Ala190Val
NR_072977.1:n.364-4143C>T
NR_072977.2:n.347-4143C>T
NM_170784.3:c.569C>T MANE Select	NP_740754.1:p.Ala190Val