Canonical Allele Identifier: CA2737986482
Gene: EP300 HGNC NCBI

Linked Data

dbSNP Id: rs2145752233

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41160619C>T , CM000684.2:g.41160619C>T GRCh38
NC_000022.10:g.41556623C>T , CM000684.1:g.41556623C>T GRCh37
NC_000022.9:g.39886569C>T NCBI36
NG_009817.1:g.73010C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703544.1:c.*1511-23C>T ENSP00000515365.1:n.*1511-23C>T
ENST00000263253.9:c.3591-23C>T MANE Select ENSP00000263253.7:n.3591-23C>T
ENST00000674155.1:c.3513-23C>T ENSP00000501078.1:n.3513-23C>T
ENST00000263253.8:c.3591-23C>T ENSP00000263253.7:n.3591-23C>T
NM_001429.3:c.3591-23C>T NP_001420.2:n.3591-23C>T
XM_006724165.2:c.3513-23C>T XP_006724228.1:n.3513-23C>T
NM_001362843.1:c.3513-23C>T NP_001349772.1:n.3513-23C>T
NM_001429.4:c.3591-23C>T MANE Select NP_001420.2:n.3591-23C>T
NM_001362843.2:c.3513-23C>T NP_001349772.1:n.3513-23C>T