Canonical Allele Identifier: CA408232155

Gene: MKKS

Linked Data

• MyVariant Identifiers: chr20:g.10393282T>A (hg19) ; chr20:g.10412634T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412634T>A , CM000682.2:g.10412634T>A	GRCh38
NC_000020.10:g.10393282T>A , CM000682.1:g.10393282T>A	GRCh37
NC_000020.9:g.10341282T>A	NCBI36
NG_009109.1:g.26585A>T
NG_009109.2:g.26585A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.881A>T	ENSP00000498849.1:p.Gln294Leu
ENST00000652676.1:n.525A>T
ENST00000347364.7:c.881A>T MANE Select	ENSP00000246062.4:p.Gln294Leu
ENST00000399054.6:c.881A>T	ENSP00000382008.2:p.Gln294Leu
NM_018848.3:c.881A>T	NP_061336.1:p.Gln294Leu
NM_170784.2:c.881A>T	NP_740754.1:p.Gln294Leu
NR_072977.1:n.364-3831A>T
NR_072977.2:n.347-3831A>T
NM_170784.3:c.881A>T MANE Select	NP_740754.1:p.Gln294Leu