Canonical Allele Identifier: CA2693632447
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48527471-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527471G>A , CM000685.2:g.48527471G>A GRCh38
NC_000023.10:g.48385859G>A , CM000685.1:g.48385859G>A GRCh37
NC_000023.9:g.48270803G>A NCBI36
NG_007452.1:g.10696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+186G>A MANE Select ENSP00000417052.1:n.469+186G>A
ENST00000651615.1:c.469+186G>A ENSP00000498524.1:n.469+186G>A
ENST00000276096.10:n.427+186G>A
ENST00000446158.5:c.469+186G>A ENSP00000390031.1:n.469+186G>A
ENST00000466461.1:n.494G>A
ENST00000495186.5:c.469+186G>A ENSP00000417052.1:n.469+186G>A
ENST00000498425.1:n.590+186G>A
NM_006579.2:c.469+186G>A NP_006570.1:n.469+186G>A
NM_006579.3:c.469+186G>A MANE Select NP_006570.1:n.469+186G>A
Search 100 bp 5'
Search 100 bp 3'