Canonical Allele Identifier: CA11566091
Community Standard Title: NM_003884.5(KAT2B):c.1044-72T>C
Gene: KAT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.20114810T>C , CM000665.2:g.20114810T>C GRCh38
NC_000003.11:g.20156302T>C , CM000665.1:g.20156302T>C GRCh37
NC_000003.10:g.20131306T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003884.5:c.1044-72T>C MANE Select NP_003875.3:n.1044-72T>C
ENST00000263754.5:c.1044-72T>C MANE Select ENSP00000263754.4:n.1044-72T>C
NM_003884.4:c.1044-72T>C NP_003875.3:n.1044-72T>C
ENST00000263754.4:c.1044-72T>C ENSP00000263754.4:n.1044-72T>C
ENST00000469085.1:n.51-89T>C
XM_005265528.3:c.1044-72T>C XP_005265585.1:n.1044-72T>C
XM_005265528.4:c.1044-72T>C XP_005265585.1:n.1044-72T>C
XM_011534206.1:c.753-72T>C XP_011532508.1:n.753-72T>C
XM_017007423.1:c.753-72T>C XP_016862912.1:n.753-72T>C
XM_017007424.1:c.753-72T>C XP_016862913.1:n.753-72T>C
XR_001740351.1:n.1115-72T>C
XR_245162.3:n.1135-72T>C
XR_245162.4:n.1115-72T>C