Canonical Allele Identifier: CA395669041
Gene: KAT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31120424G>C , CM000678.2:g.31120424G>C GRCh38
NC_000016.9:g.31131745G>C , CM000678.1:g.31131745G>C GRCh37
NC_000016.8:g.31039246G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000219797.9:c.372G>C MANE Select ENSP00000219797.3:p.Glu124Asp
ENST00000219797.8:c.372G>C ENSP00000219797.3:p.Glu124Asp
ENST00000448516.6:c.372G>C ENSP00000406037.2:p.Glu124Asp
ENST00000539683.2:n.357G>C
ENST00000543774.6:c.372G>C ENSP00000456933.2:p.Glu124Asp
NM_032188.2:c.372G>C NP_115564.2:p.Glu124Asp
NM_182958.2:c.372G>C NP_892003.2:p.Glu124Asp
XM_011545969.1:c.-103G>C XP_011544271.1:n.-103G>C
XM_011545970.1:c.-103G>C XP_011544272.1:n.-103G>C
XM_011545971.1:c.-103G>C XP_011544273.1:n.-103G>C
NM_032188.3:c.372G>C MANE Select NP_115564.2:p.Glu124Asp
NM_182958.3:c.372G>C NP_892003.2:p.Glu124Asp
NM_182958.4:c.372G>C NP_892003.2:p.Glu124Asp