Canonical Allele Identifier: CA408232702

Gene: MKKS

Linked Data

• dbSNP Id: rs561789372
• MyVariant Identifiers: chr20:g.10393542T>G (hg19) ; chr20:g.10412894T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412894T>G , CM000682.2:g.10412894T>G	GRCh38
NC_000020.10:g.10393542T>G , CM000682.1:g.10393542T>G	GRCh37
NC_000020.9:g.10341542T>G	NCBI36
NG_009109.1:g.26325A>C
NG_009109.2:g.26325A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.621A>C	ENSP00000498849.1:p.Gln207His
ENST00000652676.1:n.459-194A>C
ENST00000347364.7:c.621A>C MANE Select	ENSP00000246062.4:p.Gln207His
ENST00000399054.6:c.621A>C	ENSP00000382008.2:p.Gln207His
NM_018848.3:c.621A>C	NP_061336.1:p.Gln207His
NM_170784.2:c.621A>C	NP_740754.1:p.Gln207His
NR_072977.1:n.364-4091A>C
NR_072977.2:n.347-4091A>C
NM_170784.3:c.621A>C MANE Select	NP_740754.1:p.Gln207His