Canonical Allele Identifier: CA2579599819
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2018704
ClinVar RCV Id: RCV002862185
gnomAD v4: X-48528231-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528231C>T , CM000685.2:g.48528231C>T GRCh38
NC_000023.10:g.48386619C>T , CM000685.1:g.48386619C>T GRCh37
NC_000023.9:g.48271563C>T NCBI36
NG_007452.1:g.11456C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.470-3C>T MANE Select ENSP00000417052.1:n.470-3C>T
ENST00000651615.1:c.469+946C>T ENSP00000498524.1:n.469+946C>T
ENST00000276096.10:n.428-3C>T
ENST00000446158.5:c.470-3C>T ENSP00000390031.1:n.470-3C>T
ENST00000495186.5:c.470-3C>T ENSP00000417052.1:n.470-3C>T
ENST00000498425.1:n.591-3C>T
NM_006579.2:c.470-3C>T NP_006570.1:n.470-3C>T
NM_006579.3:c.470-3C>T MANE Select NP_006570.1:n.470-3C>T
Search 100 bp 5'
Search 100 bp 3'