Canonical Allele Identifier: CA2693633140
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48528138-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528138C>A , CM000685.2:g.48528138C>A GRCh38
NC_000023.10:g.48386526C>A , CM000685.1:g.48386526C>A GRCh37
NC_000023.9:g.48271470C>A NCBI36
NG_007452.1:g.11363C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.470-96C>A MANE Select ENSP00000417052.1:n.470-96C>A
ENST00000651615.1:c.469+853C>A ENSP00000498524.1:n.469+853C>A
ENST00000276096.10:n.428-96C>A
ENST00000446158.5:c.470-96C>A ENSP00000390031.1:n.470-96C>A
ENST00000495186.5:c.470-96C>A ENSP00000417052.1:n.470-96C>A
ENST00000498425.1:n.591-96C>A
NM_006579.2:c.470-96C>A NP_006570.1:n.470-96C>A
NM_006579.3:c.470-96C>A MANE Select NP_006570.1:n.470-96C>A
Search 100 bp 5'
Search 100 bp 3'