Canonical Allele Identifier: CA10643483

Gene: MKKS

Linked Data

• ClinVar Variation Id: 337707
• ClinVar RCV Id: RCV000263425 ; RCV000374477
• dbSNP Id: rs145467994
• gnomAD v2: 20-10401315-T-C
• gnomAD v3: 20-10420667-T-C
• gnomAD v4: 20-10420667-T-C
• MyVariant Identifiers: chr20:g.10401315T>C (hg19) ; chr20:g.10420667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10420667T>C , CM000682.2:g.10420667T>C	GRCh38
NC_000020.10:g.10401315T>C , CM000682.1:g.10401315T>C	GRCh37
NC_000020.9:g.10349315T>C	NCBI36
NG_009109.1:g.18552A>G
NG_009109.2:g.18552A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649912.2:c.71A>G	ENSP00000497510.1:p.His24Arg
ENST00000713549.1:c.-184A>G	ENSP00000518845.1:n.-184A>G
ENST00000649912.1:c.71A>G	ENSP00000497510.1:p.His24Arg
ENST00000651692.1:c.-557A>G	ENSP00000498849.1:n.-557A>G
ENST00000652676.1:n.183A>G
ENST00000347364.7:c.-557A>G MANE Select	ENSP00000246062.4:n.-557A>G
ENST00000399054.6:c.-557A>G	ENSP00000382008.2:n.-557A>G
ENST00000609375.1:c.71A>G	ENSP00000477297.1:p.His24Arg
NM_018848.3:c.-557A>G	NP_061336.1:n.-557A>G
NM_170784.2:c.-557A>G	NP_740754.1:n.-557A>G
NR_072977.1:n.224A>G
NR_072977.2:n.207A>G
NM_001394148.1:c.71A>G	NP_001381077.1:p.His24Arg
NM_001394149.1:c.-184A>G	NP_001381078.1:n.-184A>G
NM_170784.3:c.-557A>G MANE Select	NP_740754.1:n.-557A>G