Canonical Allele Identifier: CA2656906786
Gene: EP300 HGNC NCBI

Linked Data

gnomAD v4: 22-41147770-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41147770G>A , CM000684.2:g.41147770G>A GRCh38
NC_000022.10:g.41543774G>A , CM000684.1:g.41543774G>A GRCh37
NC_000022.9:g.39873720G>A NCBI36
NG_009817.1:g.60161G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703544.1:c.*52-67G>A ENSP00000515365.1:n.*52-67G>A
ENST00000703545.1:c.1922-67G>A
ENST00000263253.9:c.2132-67G>A MANE Select ENSP00000263253.7:n.2132-67G>A
ENST00000674155.1:c.2054-67G>A ENSP00000501078.1:n.2054-67G>A
ENST00000263253.8:c.2132-67G>A ENSP00000263253.7:n.2132-67G>A
ENST00000634728.1:c.176-67G>A ENSP00000488981.1:n.176-67G>A
ENST00000635538.1:n.265-67G>A
NM_001429.3:c.2132-67G>A NP_001420.2:n.2132-67G>A
XM_006724165.2:c.2054-67G>A XP_006724228.1:n.2054-67G>A
NM_001362843.1:c.2054-67G>A NP_001349772.1:n.2054-67G>A
NM_001429.4:c.2132-67G>A MANE Select NP_001420.2:n.2132-67G>A
NM_001362843.2:c.2054-67G>A NP_001349772.1:n.2054-67G>A
Search 100 bp 5'
Search 100 bp 3'