Canonical Allele Identifier: CA9763652
Gene: MKKS HGNC NCBI

Linked Data

dbSNP Id: rs371105498
ExAC: 20:10393526 T / C
gnomAD v2: 20-10393526-T-C
gnomAD v3: 20-10412878-T-C
gnomAD v4: 20-10412878-T-C
MyVariant Identifiers: chr20:g.10393526T>C (hg19) chr20:g.10412878T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412878T>C , CM000682.2:g.10412878T>C GRCh38
NC_000020.10:g.10393526T>C , CM000682.1:g.10393526T>C GRCh37
NC_000020.9:g.10341526T>C NCBI36
NG_009109.1:g.26341A>G
NG_009109.2:g.26341A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.637A>G ENSP00000498849.1:p.Thr213Ala
ENST00000652676.1:n.459-178A>G
ENST00000347364.7:c.637A>G MANE Select ENSP00000246062.4:p.Thr213Ala
ENST00000399054.6:c.637A>G ENSP00000382008.2:p.Thr213Ala
NM_018848.3:c.637A>G NP_061336.1:p.Thr213Ala
NM_170784.2:c.637A>G NP_740754.1:p.Thr213Ala
NR_072977.1:n.364-4075A>G
NR_072977.2:n.347-4075A>G
NM_170784.3:c.637A>G MANE Select NP_740754.1:p.Thr213Ala
Search 100 bp 5'
Search 100 bp 3'