Canonical Allele Identifier: CA395668200
Community Standard Title: NM_032188.3(KAT8):c.275A>G (p.His92Arg)
Gene: KAT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31120249A>G , CM000678.2:g.31120249A>G GRCh38
NC_000016.9:g.31131570A>G , CM000678.1:g.31131570A>G GRCh37
NC_000016.8:g.31039071A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032188.3:c.275A>G MANE Select NP_115564.2:p.His92Arg
ENST00000219797.9:c.275A>G MANE Select ENSP00000219797.3:p.His92Arg
NM_032188.2:c.275A>G NP_115564.2:p.His92Arg
NM_182958.2:c.275A>G NP_892003.2:p.His92Arg
NM_182958.3:c.275A>G NP_892003.2:p.His92Arg
NM_182958.4:c.275A>G NP_892003.2:p.His92Arg
ENST00000219797.8:c.275A>G ENSP00000219797.3:p.His92Arg
ENST00000448516.6:c.275A>G ENSP00000406037.2:p.His92Arg
ENST00000539683.2:n.260A>G
ENST00000543774.6:c.275A>G ENSP00000456933.2:p.His92Arg
XM_011545969.1:c.-200A>G XP_011544271.1:n.-200A>G
XM_011545970.1:c.-200A>G XP_011544272.1:n.-200A>G
XM_011545971.1:c.-200A>G XP_011544273.1:n.-200A>G