Canonical Allele Identifier: CA028860

Gene: MKKS

Linked Data

• PubMed: PMID:10802661 ; PMID:16104012

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.[10412791C>A;10413265G>A] , CM000682.2:g.[10412791C>A;10413265G>A]	GRCh38
NC_000020.10:g.[10393439C>A;10393913G>A] , CM000682.1:g.[10393439C>A;10393913G>A]	GRCh37
NC_000020.9:g.[10341439C>A;10341913G>A]	NCBI36
NG_009109.1:g.[25954C>T;26428G>T]
NG_009109.2:g.[25954C>T;26428G>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651692.1:c.[250C>T;724G>T]	ENSP00000498849.1:p.[His84Tyr;Ala242Ser]
ENST00000652676.1:n.[458+531C>T;459-91G>T]
ENST00000347364.7:c.[250C>T;724G>T] MANE Select	ENSP00000246062.4:p.[His84Tyr;Ala242Ser]
ENST00000399054.6:c.[250C>T;724G>T]	ENSP00000382008.2:p.[His84Tyr;Ala242Ser]
NM_018848.3:c.[250C>T;724G>T]	NP_061336.1:p.[His84Tyr;Ala242Ser]
NM_170784.2:c.[250C>T;724G>T]	NP_740754.1:p.[His84Tyr;Ala242Ser]
NR_072977.1:n.[364-4462C>T;364-3988G>T]
NR_072977.2:n.[347-4462C>T;347-3988G>T]
NM_170784.3:c.[250C>T;724G>T] MANE Select	NP_740754.1:p.[His84Tyr;Ala242Ser]