Canonical Allele Identifier: CA2693632409

Gene: EBP

Linked Data

• gnomAD v4: X-48527427-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527427C>T , CM000685.2:g.48527427C>T	GRCh38
NC_000023.10:g.48385815C>T , CM000685.1:g.48385815C>T	GRCh37
NC_000023.9:g.48270759C>T	NCBI36
NG_007452.1:g.10652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+142C>T MANE Select	ENSP00000417052.1:n.469+142C>T
ENST00000651615.1:c.469+142C>T	ENSP00000498524.1:n.469+142C>T
ENST00000276096.10:n.427+142C>T
ENST00000446158.5:c.469+142C>T	ENSP00000390031.1:n.469+142C>T
ENST00000466461.1:n.450C>T
ENST00000495186.5:c.469+142C>T	ENSP00000417052.1:n.469+142C>T
ENST00000498425.1:n.590+142C>T
NM_006579.2:c.469+142C>T	NP_006570.1:n.469+142C>T
NM_006579.3:c.469+142C>T MANE Select	NP_006570.1:n.469+142C>T