Canonical Allele Identifier: CA408232018

Gene: MKKS

Linked Data

• MyVariant Identifiers: chr20:g.10393222T>C (hg19) ; chr20:g.10412574T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412574T>C , CM000682.2:g.10412574T>C	GRCh38
NC_000020.10:g.10393222T>C , CM000682.1:g.10393222T>C	GRCh37
NC_000020.9:g.10341222T>C	NCBI36
NG_009109.1:g.26645A>G
NG_009109.2:g.26645A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.941A>G	ENSP00000498849.1:p.Asp314Gly
ENST00000652676.1:n.585A>G
ENST00000347364.7:c.941A>G MANE Select	ENSP00000246062.4:p.Asp314Gly
ENST00000399054.6:c.941A>G	ENSP00000382008.2:p.Asp314Gly
NM_018848.3:c.941A>G	NP_061336.1:p.Asp314Gly
NM_170784.2:c.941A>G	NP_740754.1:p.Asp314Gly
NR_072977.1:n.364-3771A>G
NR_072977.2:n.347-3771A>G
NM_170784.3:c.941A>G MANE Select	NP_740754.1:p.Asp314Gly