Canonical Allele Identifier: CA408232584

Gene: MKKS

Linked Data

• ClinVar Variation Id: 1408352
• ClinVar RCV Id: RCV001909930
• dbSNP Id: rs2122234652
• MyVariant Identifiers: chr20:g.10393487G>A (hg19) ; chr20:g.10412839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412839G>A , CM000682.2:g.10412839G>A	GRCh38
NC_000020.10:g.10393487G>A , CM000682.1:g.10393487G>A	GRCh37
NC_000020.9:g.10341487G>A	NCBI36
NG_009109.1:g.26380C>T
NG_009109.2:g.26380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.676C>T	ENSP00000498849.1:p.Gln226Ter
ENST00000652676.1:n.459-139C>T
ENST00000347364.7:c.676C>T MANE Select	ENSP00000246062.4:p.Gln226Ter
ENST00000399054.6:c.676C>T	ENSP00000382008.2:p.Gln226Ter
NM_018848.3:c.676C>T	NP_061336.1:p.Gln226Ter
NM_170784.2:c.676C>T	NP_740754.1:p.Gln226Ter
NR_072977.1:n.364-4036C>T
NR_072977.2:n.347-4036C>T
NM_170784.3:c.676C>T MANE Select	NP_740754.1:p.Gln226Ter