Canonical Allele Identifier: CA9763644
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 2929354
ClinVar RCV Id: RCV003782080
dbSNP Id: rs764910901
ExAC: 20:10393485 T / C
gnomAD v2: 20-10393485-T-C
gnomAD v3: 20-10412837-T-C
gnomAD v4: 20-10412837-T-C
MyVariant Identifiers: chr20:g.10393485T>C (hg19) chr20:g.10412837T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412837T>C , CM000682.2:g.10412837T>C GRCh38
NC_000020.10:g.10393485T>C , CM000682.1:g.10393485T>C GRCh37
NC_000020.9:g.10341485T>C NCBI36
NG_009109.1:g.26382A>G
NG_009109.2:g.26382A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.678A>G ENSP00000498849.1:p.Gln226=
ENST00000652676.1:n.459-137A>G
ENST00000347364.7:c.678A>G MANE Select ENSP00000246062.4:p.Gln226=
ENST00000399054.6:c.678A>G ENSP00000382008.2:p.Gln226=
NM_018848.3:c.678A>G NP_061336.1:p.Gln226=
NM_170784.2:c.678A>G NP_740754.1:p.Gln226=
NR_072977.1:n.364-4034A>G
NR_072977.2:n.347-4034A>G
NM_170784.3:c.678A>G MANE Select NP_740754.1:p.Gln226=
Search 100 bp 5'
Search 100 bp 3'