Canonical Allele Identifier: CA408232645

Gene: MKKS

Linked Data

• dbSNP Id: rs1306879502
• gnomAD v2: 20-10393514-C-T
• MyVariant Identifiers: chr20:g.10393514C>T (hg19) ; chr20:g.10412866C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10412866C>T , CM000682.2:g.10412866C>T	GRCh38
NC_000020.10:g.10393514C>T , CM000682.1:g.10393514C>T	GRCh37
NC_000020.9:g.10341514C>T	NCBI36
NG_009109.1:g.26353G>A
NG_009109.2:g.26353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.649G>A	ENSP00000498849.1:p.Gly217Arg
ENST00000652676.1:n.459-166G>A
ENST00000347364.7:c.649G>A MANE Select	ENSP00000246062.4:p.Gly217Arg
ENST00000399054.6:c.649G>A	ENSP00000382008.2:p.Gly217Arg
NM_018848.3:c.649G>A	NP_061336.1:p.Gly217Arg
NM_170784.2:c.649G>A	NP_740754.1:p.Gly217Arg
NR_072977.1:n.364-4063G>A
NR_072977.2:n.347-4063G>A
NM_170784.3:c.649G>A MANE Select	NP_740754.1:p.Gly217Arg