Canonical Allele Identifier: CA11399325
Community Standard Title: NM_003884.5(KAT2B):c.1043+115G>A
Gene: KAT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.20111902G>A , CM000665.2:g.20111902G>A GRCh38
NC_000003.11:g.20153394G>A , CM000665.1:g.20153394G>A GRCh37
NC_000003.10:g.20128398G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003884.5:c.1043+115G>A MANE Select NP_003875.3:n.1043+115G>A
ENST00000263754.5:c.1043+115G>A MANE Select ENSP00000263754.4:n.1043+115G>A
NM_003884.4:c.1043+115G>A NP_003875.3:n.1043+115G>A
ENST00000263754.4:c.1043+115G>A ENSP00000263754.4:n.1043+115G>A
ENST00000469085.1:n.50+259G>A
XM_005265528.3:c.1043+115G>A XP_005265585.1:n.1043+115G>A
XM_005265528.4:c.1043+115G>A XP_005265585.1:n.1043+115G>A
XM_011534206.1:c.752+115G>A XP_011532508.1:n.752+115G>A
XM_017007423.1:c.752+115G>A XP_016862912.1:n.752+115G>A
XM_017007424.1:c.752+115G>A XP_016862913.1:n.752+115G>A
XR_001740351.1:n.1114+115G>A
XR_245162.3:n.1134+115G>A
XR_245162.4:n.1114+115G>A