Canonical Allele Identifier: CA1132939147
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs2061781474
gnomAD v3: X-48527078-G-A
gnomAD v4: X-48527078-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527078G>A , CM000685.2:g.48527078G>A GRCh38
NC_000023.10:g.48385466G>A , CM000685.1:g.48385466G>A GRCh37
NC_000023.9:g.48270410G>A NCBI36
NG_007452.1:g.10303G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.338+53G>A MANE Select ENSP00000417052.1:n.338+53G>A
ENST00000651615.1:c.338+53G>A ENSP00000498524.1:n.338+53G>A
ENST00000276096.10:n.296+53G>A
ENST00000414061.1:c.338+53G>A ENSP00000405832.1:n.338+53G>A
ENST00000446158.5:c.338+53G>A ENSP00000390031.1:n.338+53G>A
ENST00000466461.1:n.177+53G>A
ENST00000495186.5:c.338+53G>A ENSP00000417052.1:n.338+53G>A
ENST00000498425.1:n.459+53G>A
NM_006579.2:c.338+53G>A NP_006570.1:n.338+53G>A
NM_006579.3:c.338+53G>A MANE Select NP_006570.1:n.338+53G>A
Search 100 bp 5'
Search 100 bp 3'