Canonical Allele Identifier: CA9763608
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 636042
ClinVar RCV Id: RCV000787622 RCV001312663 RCV003472325
dbSNP Id: rs147704542
ExAC: 20:10393273 A / G
gnomAD v2: 20-10393273-A-G
gnomAD v3: 20-10412625-A-G
gnomAD v4: 20-10412625-A-G
MyVariant Identifiers: chr20:g.10393273A>G (hg19) chr20:g.10412625A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412625A>G , CM000682.2:g.10412625A>G GRCh38
NC_000020.10:g.10393273A>G , CM000682.1:g.10393273A>G GRCh37
NC_000020.9:g.10341273A>G NCBI36
NG_009109.1:g.26594T>C
NG_009109.2:g.26594T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.890T>C ENSP00000498849.1:p.Ile297Thr
ENST00000652676.1:n.534T>C
ENST00000347364.7:c.890T>C MANE Select ENSP00000246062.4:p.Ile297Thr
ENST00000399054.6:c.890T>C ENSP00000382008.2:p.Ile297Thr
NM_018848.3:c.890T>C NP_061336.1:p.Ile297Thr
NM_170784.2:c.890T>C NP_740754.1:p.Ile297Thr
NR_072977.1:n.364-3822T>C
NR_072977.2:n.347-3822T>C
NM_170784.3:c.890T>C MANE Select NP_740754.1:p.Ile297Thr
Search 100 bp 5'
Search 100 bp 3'