Canonical Allele Identifier: CA2693632387

Gene: EBP

Linked Data

• gnomAD v4: X-48527390-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527390C>G , CM000685.2:g.48527390C>G	GRCh38
NC_000023.10:g.48385778C>G , CM000685.1:g.48385778C>G	GRCh37
NC_000023.9:g.48270722C>G	NCBI36
NG_007452.1:g.10615C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+105C>G MANE Select	ENSP00000417052.1:n.469+105C>G
ENST00000651615.1:c.469+105C>G	ENSP00000498524.1:n.469+105C>G
ENST00000276096.10:n.427+105C>G
ENST00000446158.5:c.469+105C>G	ENSP00000390031.1:n.469+105C>G
ENST00000466461.1:n.413C>G
ENST00000495186.5:c.469+105C>G	ENSP00000417052.1:n.469+105C>G
ENST00000498425.1:n.590+105C>G
NM_006579.2:c.469+105C>G	NP_006570.1:n.469+105C>G
NM_006579.3:c.469+105C>G MANE Select	NP_006570.1:n.469+105C>G