Canonical Allele Identifier: CA408232171
Gene: MKKS HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10393289G>C (hg19) chr20:g.10412641G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412641G>C , CM000682.2:g.10412641G>C GRCh38
NC_000020.10:g.10393289G>C , CM000682.1:g.10393289G>C GRCh37
NC_000020.9:g.10341289G>C NCBI36
NG_009109.1:g.26578C>G
NG_009109.2:g.26578C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.874C>G ENSP00000498849.1:p.Leu292Val
ENST00000652676.1:n.518C>G
ENST00000347364.7:c.874C>G MANE Select ENSP00000246062.4:p.Leu292Val
ENST00000399054.6:c.874C>G ENSP00000382008.2:p.Leu292Val
NM_018848.3:c.874C>G NP_061336.1:p.Leu292Val
NM_170784.2:c.874C>G NP_740754.1:p.Leu292Val
NR_072977.1:n.364-3838C>G
NR_072977.2:n.347-3838C>G
NM_170784.3:c.874C>G MANE Select NP_740754.1:p.Leu292Val
Search 100 bp 5'
Search 100 bp 3'