Canonical Allele Identifier: CA2693631794
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48523759-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523759A>G , CM000685.2:g.48523759A>G GRCh38
NC_000023.10:g.48382147A>G , CM000685.1:g.48382147A>G GRCh37
NC_000023.9:g.48267091A>G NCBI36
NG_007452.1:g.6984A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.-13A>G MANE Select ENSP00000417052.1:n.-13A>G
ENST00000651615.1:c.-13A>G ENSP00000498524.1:n.-13A>G
ENST00000276096.10:n.110-164A>G
ENST00000414061.1:c.-13A>G ENSP00000405832.1:n.-13A>G
ENST00000446158.5:c.-13A>G ENSP00000390031.1:n.-13A>G
ENST00000495186.5:c.-13A>G ENSP00000417052.1:n.-13A>G
ENST00000498425.1:n.109A>G
NM_006579.2:c.-13A>G NP_006570.1:n.-13A>G
NM_006579.3:c.-13A>G MANE Select NP_006570.1:n.-13A>G
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