Canonical Allele Identifier: CA395679740
Community Standard Title: NM_032188.3(KAT8):c.1282A>C (p.Ser428Arg)
Gene: KAT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31130870A>C , CM000678.2:g.31130870A>C GRCh38
NC_000016.9:g.31142191A>C , CM000678.1:g.31142191A>C GRCh37
NC_000016.8:g.31049692A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032188.3:c.1282A>C MANE Select NP_115564.2:p.Ser428Arg
ENST00000219797.9:c.1282A>C MANE Select ENSP00000219797.3:p.Ser428Arg
NM_032188.2:c.1282A>C NP_115564.2:p.Ser428Arg
NM_182958.2:c.1282A>C NP_892003.2:p.Ser428Arg
NM_182958.3:c.1282A>C NP_892003.2:p.Ser428Arg
NM_182958.4:c.1282A>C NP_892003.2:p.Ser428Arg
ENST00000219797.8:c.1282A>C ENSP00000219797.3:p.Ser428Arg
ENST00000448516.6:c.1282A>C ENSP00000406037.2:p.Ser428Arg
ENST00000537402.1:c.822A>C
ENST00000538768.2:n.2271A>C
ENST00000543774.6:c.1282A>C ENSP00000456933.2:p.Ser428Arg
ENST00000573144.1:n.415A>C
XM_011545969.1:c.808A>C XP_011544271.1:p.Ser270Arg
XM_011545970.1:c.808A>C XP_011544272.1:p.Ser270Arg
XM_011545971.1:c.808A>C XP_011544273.1:p.Ser270Arg