Canonical Allele Identifier: CA2693632336

Gene: EBP

Linked Data

• gnomAD v4: X-48527051-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527051G>A , CM000685.2:g.48527051G>A	GRCh38
NC_000023.10:g.48385439G>A , CM000685.1:g.48385439G>A	GRCh37
NC_000023.9:g.48270383G>A	NCBI36
NG_007452.1:g.10276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.338+26G>A MANE Select	ENSP00000417052.1:n.338+26G>A
ENST00000651615.1:c.338+26G>A	ENSP00000498524.1:n.338+26G>A
ENST00000276096.10:n.296+26G>A
ENST00000414061.1:c.338+26G>A	ENSP00000405832.1:n.338+26G>A
ENST00000446158.5:c.338+26G>A	ENSP00000390031.1:n.338+26G>A
ENST00000466461.1:n.177+26G>A
ENST00000495186.5:c.338+26G>A	ENSP00000417052.1:n.338+26G>A
ENST00000498425.1:n.459+26G>A
NM_006579.2:c.338+26G>A	NP_006570.1:n.338+26G>A
NM_006579.3:c.338+26G>A MANE Select	NP_006570.1:n.338+26G>A