Canonical Allele Identifier: CA10652347

Gene: MKKS

Linked Data

• ClinVar Variation Id: 337703
• ClinVar RCV Id: RCV000309930 ; RCV000393654
• dbSNP Id: rs886056501
• gnomAD v2: 20-10401235-C-A
• gnomAD v3: 20-10420587-C-A
• gnomAD v4: 20-10420587-C-A
• MyVariant Identifiers: chr20:g.10401235C>A (hg19) ; chr20:g.10420587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10420587C>A , CM000682.2:g.10420587C>A	GRCh38
NC_000020.10:g.10401235C>A , CM000682.1:g.10401235C>A	GRCh37
NC_000020.9:g.10349235C>A	NCBI36
NG_009109.1:g.18632G>T
NG_009109.2:g.18632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649912.2:c.151G>T	ENSP00000497510.1:p.Gly51Ter
ENST00000713549.1:c.-104G>T	ENSP00000518845.1:n.-104G>T
ENST00000649912.1:c.151G>T	ENSP00000497510.1:p.Gly51Ter
ENST00000651692.1:c.-477G>T	ENSP00000498849.1:n.-477G>T
ENST00000652676.1:n.263G>T
ENST00000347364.7:c.-477G>T MANE Select	ENSP00000246062.4:n.-477G>T
ENST00000399054.6:c.-477G>T	ENSP00000382008.2:n.-477G>T
ENST00000609375.1:c.151G>T	ENSP00000477297.1:p.Gly51Ter
NM_018848.3:c.-477G>T	NP_061336.1:n.-477G>T
NM_170784.2:c.-477G>T	NP_740754.1:n.-477G>T
NR_072977.1:n.304G>T
NR_072977.2:n.287G>T
NM_001394148.1:c.151G>T	NP_001381077.1:p.Gly51Ter
NM_001394149.1:c.-104G>T	NP_001381078.1:n.-104G>T
NM_170784.3:c.-477G>T MANE Select	NP_740754.1:n.-477G>T