Canonical Allele Identifier: CA2693632420

Gene: EBP

Linked Data

• gnomAD v4: X-48527445-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527445C>G , CM000685.2:g.48527445C>G	GRCh38
NC_000023.10:g.48385833C>G , CM000685.1:g.48385833C>G	GRCh37
NC_000023.9:g.48270777C>G	NCBI36
NG_007452.1:g.10670C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+160C>G MANE Select	ENSP00000417052.1:n.469+160C>G
ENST00000651615.1:c.469+160C>G	ENSP00000498524.1:n.469+160C>G
ENST00000276096.10:n.427+160C>G
ENST00000446158.5:c.469+160C>G	ENSP00000390031.1:n.469+160C>G
ENST00000466461.1:n.468C>G
ENST00000495186.5:c.469+160C>G	ENSP00000417052.1:n.469+160C>G
ENST00000498425.1:n.590+160C>G
NM_006579.2:c.469+160C>G	NP_006570.1:n.469+160C>G
NM_006579.3:c.469+160C>G MANE Select	NP_006570.1:n.469+160C>G