Canonical Allele Identifier: CA2693631691
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48523678-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523678C>A , CM000685.2:g.48523678C>A GRCh38
NC_000023.10:g.48382066C>A , CM000685.1:g.48382066C>A GRCh37
NC_000023.9:g.48267010C>A NCBI36
NG_007452.1:g.6903C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.-73-21C>A MANE Select ENSP00000417052.1:n.-73-21C>A
ENST00000651615.1:c.-73-21C>A ENSP00000498524.1:n.-73-21C>A
ENST00000276096.10:n.110-245C>A
ENST00000414061.1:c.-73-21C>A ENSP00000405832.1:n.-73-21C>A
ENST00000446158.5:c.-73-21C>A ENSP00000390031.1:n.-73-21C>A
ENST00000495186.5:c.-73-21C>A ENSP00000417052.1:n.-73-21C>A
ENST00000498425.1:n.104-76C>A
NM_006579.2:c.-73-21C>A NP_006570.1:n.-73-21C>A
NM_006579.3:c.-73-21C>A MANE Select NP_006570.1:n.-73-21C>A
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