Canonical Allele Identifier: CA1132939465
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs2061784528
gnomAD v3: X-48528128-G-A
gnomAD v4: X-48528128-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528128G>A , CM000685.2:g.48528128G>A GRCh38
NC_000023.10:g.48386516G>A , CM000685.1:g.48386516G>A GRCh37
NC_000023.9:g.48271460G>A NCBI36
NG_007452.1:g.11353G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.470-106G>A MANE Select ENSP00000417052.1:n.470-106G>A
ENST00000651615.1:c.469+843G>A ENSP00000498524.1:n.469+843G>A
ENST00000276096.10:n.428-106G>A
ENST00000446158.5:c.470-106G>A ENSP00000390031.1:n.470-106G>A
ENST00000495186.5:c.470-106G>A ENSP00000417052.1:n.470-106G>A
ENST00000498425.1:n.591-106G>A
NM_006579.2:c.470-106G>A NP_006570.1:n.470-106G>A
NM_006579.3:c.470-106G>A MANE Select NP_006570.1:n.470-106G>A