Canonical Allele Identifier: CA311323704
Gene: MKKS HGNC NCBI

Linked Data

dbSNP Id: rs201243884
gnomAD v3: 20-10412886-A-C
gnomAD v4: 20-10412886-A-C
MyVariant Identifiers: chr20:g.10393534A>C (hg19) chr20:g.10412886A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412886A>C , CM000682.2:g.10412886A>C GRCh38
NC_000020.10:g.10393534A>C , CM000682.1:g.10393534A>C GRCh37
NC_000020.9:g.10341534A>C NCBI36
NG_009109.1:g.26333T>G
NG_009109.2:g.26333T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.629T>G ENSP00000498849.1:p.Ile210Arg
ENST00000652676.1:n.459-186T>G
ENST00000347364.7:c.629T>G MANE Select ENSP00000246062.4:p.Ile210Arg
ENST00000399054.6:c.629T>G ENSP00000382008.2:p.Ile210Arg
NM_018848.3:c.629T>G NP_061336.1:p.Ile210Arg
NM_170784.2:c.629T>G NP_740754.1:p.Ile210Arg
NR_072977.1:n.364-4083T>G
NR_072977.2:n.347-4083T>G
NM_170784.3:c.629T>G MANE Select NP_740754.1:p.Ile210Arg
Search 100 bp 5'
Search 100 bp 3'