Canonical Allele Identifier: CA395679755
Community Standard Title: NM_032188.3(KAT8):c.1284T>A (p.Ser428Arg)
Gene: KAT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31130872T>A , CM000678.2:g.31130872T>A GRCh38
NC_000016.9:g.31142193T>A , CM000678.1:g.31142193T>A GRCh37
NC_000016.8:g.31049694T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032188.3:c.1284T>A MANE Select NP_115564.2:p.Ser428Arg
ENST00000219797.9:c.1284T>A MANE Select ENSP00000219797.3:p.Ser428Arg
NM_032188.2:c.1284T>A NP_115564.2:p.Ser428Arg
NM_182958.2:c.1284T>A NP_892003.2:p.Ser428Arg
NM_182958.3:c.1284T>A NP_892003.2:p.Ser428Arg
NM_182958.4:c.1284T>A NP_892003.2:p.Ser428Arg
ENST00000219797.8:c.1284T>A ENSP00000219797.3:p.Ser428Arg
ENST00000448516.6:c.1284T>A ENSP00000406037.2:p.Ser428Arg
ENST00000537402.1:c.824T>A
ENST00000538768.2:n.2273T>A
ENST00000543774.6:c.1284T>A ENSP00000456933.2:p.Ser428Arg
ENST00000573144.1:n.417T>A
XM_011545969.1:c.810T>A XP_011544271.1:p.Ser270Arg
XM_011545970.1:c.810T>A XP_011544272.1:p.Ser270Arg
XM_011545971.1:c.810T>A XP_011544273.1:p.Ser270Arg