Canonical Allele Identifier: CA408232762

Gene: MKKS

Linked Data

• dbSNP Id: rs1292044552
• gnomAD v2: 20-10393568-T-C
• MyVariant Identifiers: chr20:g.10393568T>C (hg19) ; chr20:g.10412920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412920T>C , CM000682.2:g.10412920T>C	GRCh38
NC_000020.10:g.10393568T>C , CM000682.1:g.10393568T>C	GRCh37
NC_000020.9:g.10341568T>C	NCBI36
NG_009109.1:g.26299A>G
NG_009109.2:g.26299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.595A>G	ENSP00000498849.1:p.Ser199Gly
ENST00000652676.1:n.459-220A>G
ENST00000347364.7:c.595A>G MANE Select	ENSP00000246062.4:p.Ser199Gly
ENST00000399054.6:c.595A>G	ENSP00000382008.2:p.Ser199Gly
NM_018848.3:c.595A>G	NP_061336.1:p.Ser199Gly
NM_170784.2:c.595A>G	NP_740754.1:p.Ser199Gly
NR_072977.1:n.364-4117A>G
NR_072977.2:n.347-4117A>G
NM_170784.3:c.595A>G MANE Select	NP_740754.1:p.Ser199Gly