Canonical Allele Identifier: CA2693633165
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48528180-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528180C>A , CM000685.2:g.48528180C>A GRCh38
NC_000023.10:g.48386568C>A , CM000685.1:g.48386568C>A GRCh37
NC_000023.9:g.48271512C>A NCBI36
NG_007452.1:g.11405C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.470-54C>A MANE Select ENSP00000417052.1:n.470-54C>A
ENST00000651615.1:c.469+895C>A ENSP00000498524.1:n.469+895C>A
ENST00000276096.10:n.428-54C>A
ENST00000446158.5:c.470-54C>A ENSP00000390031.1:n.470-54C>A
ENST00000495186.5:c.470-54C>A ENSP00000417052.1:n.470-54C>A
ENST00000498425.1:n.591-54C>A
NM_006579.2:c.470-54C>A NP_006570.1:n.470-54C>A
NM_006579.3:c.470-54C>A MANE Select NP_006570.1:n.470-54C>A
Search 100 bp 5'
Search 100 bp 3'