Canonical Allele Identifier: CA2693633135

Gene: EBP

Linked Data

• gnomAD v4: X-48528132-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48528132T>G , CM000685.2:g.48528132T>G	GRCh38
NC_000023.10:g.48386520T>G , CM000685.1:g.48386520T>G	GRCh37
NC_000023.9:g.48271464T>G	NCBI36
NG_007452.1:g.11357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.470-102T>G MANE Select	ENSP00000417052.1:n.470-102T>G
ENST00000651615.1:c.469+847T>G	ENSP00000498524.1:n.469+847T>G
ENST00000276096.10:n.428-102T>G
ENST00000446158.5:c.470-102T>G	ENSP00000390031.1:n.470-102T>G
ENST00000495186.5:c.470-102T>G	ENSP00000417052.1:n.470-102T>G
ENST00000498425.1:n.591-102T>G
NM_006579.2:c.470-102T>G	NP_006570.1:n.470-102T>G
NM_006579.3:c.470-102T>G MANE Select	NP_006570.1:n.470-102T>G