Canonical Allele Identifier: CA2693631795
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48523760-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523760G>C , CM000685.2:g.48523760G>C GRCh38
NC_000023.10:g.48382148G>C , CM000685.1:g.48382148G>C GRCh37
NC_000023.9:g.48267092G>C NCBI36
NG_007452.1:g.6985G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.-12G>C MANE Select ENSP00000417052.1:n.-12G>C
ENST00000651615.1:c.-12G>C ENSP00000498524.1:n.-12G>C
ENST00000276096.10:n.110-163G>C
ENST00000414061.1:c.-12G>C ENSP00000405832.1:n.-12G>C
ENST00000446158.5:c.-12G>C ENSP00000390031.1:n.-12G>C
ENST00000495186.5:c.-12G>C ENSP00000417052.1:n.-12G>C
ENST00000498425.1:n.110G>C
NM_006579.2:c.-12G>C NP_006570.1:n.-12G>C
NM_006579.3:c.-12G>C MANE Select NP_006570.1:n.-12G>C
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