Canonical Allele Identifier: CA2651911607
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 2948378
ClinVar RCV Id: RCV003807200
gnomAD v4: 20-10412521-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412521G>A , CM000682.2:g.10412521G>A GRCh38
NC_000020.10:g.10393169G>A , CM000682.1:g.10393169G>A GRCh37
NC_000020.9:g.10341169G>A NCBI36
NG_009109.1:g.26698C>T
NG_009109.2:g.26698C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.985+9C>T ENSP00000498849.1:n.985+9C>T
ENST00000652676.1:n.629+9C>T
ENST00000347364.7:c.985+9C>T MANE Select ENSP00000246062.4:n.985+9C>T
ENST00000399054.6:c.985+9C>T ENSP00000382008.2:n.985+9C>T
NM_018848.3:c.985+9C>T NP_061336.1:n.985+9C>T
NM_170784.2:c.985+9C>T NP_740754.1:n.985+9C>T
NR_072977.1:n.364-3718C>T
NR_072977.2:n.347-3718C>T
NM_170784.3:c.985+9C>T MANE Select NP_740754.1:n.985+9C>T
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