Canonical Allele Identifier: CA9763686

Gene: MKKS

Linked Data

• dbSNP Id: rs768539582
• ExAC: 20:10393733 A / C
• gnomAD v2: 20-10393733-A-C
• MyVariant Identifiers: chr20:g.10393733A>C (hg19) ; chr20:g.10413085A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10413085A>C , CM000682.2:g.10413085A>C	GRCh38
NC_000020.10:g.10393733A>C , CM000682.1:g.10393733A>C	GRCh37
NC_000020.9:g.10341733A>C	NCBI36
NG_009109.1:g.26134T>G
NG_009109.2:g.26134T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651692.1:c.430T>G	ENSP00000498849.1:p.Phe144Val
ENST00000652676.1:n.459-385T>G
ENST00000347364.7:c.430T>G MANE Select	ENSP00000246062.4:p.Phe144Val
ENST00000399054.6:c.430T>G	ENSP00000382008.2:p.Phe144Val
NM_018848.3:c.430T>G	NP_061336.1:p.Phe144Val
NM_170784.2:c.430T>G	NP_740754.1:p.Phe144Val
NR_072977.1:n.364-4282T>G
NR_072977.2:n.347-4282T>G
NM_170784.3:c.430T>G MANE Select	NP_740754.1:p.Phe144Val