Canonical Allele Identifier: CA2520409197
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48527445-C-A
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+160C>A MANE Select ENSP00000417052.1:n.469+160C>A
ENST00000651615.1:c.469+160C>A ENSP00000498524.1:n.469+160C>A
ENST00000276096.10:n.427+160C>A
ENST00000446158.5:c.469+160C>A ENSP00000390031.1:n.469+160C>A
ENST00000466461.1:n.468C>A
ENST00000495186.5:c.469+160C>A ENSP00000417052.1:n.469+160C>A
ENST00000498425.1:n.590+160C>A
NM_006579.2:c.469+160C>A NP_006570.1:n.469+160C>A
NM_006579.3:c.469+160C>A MANE Select NP_006570.1:n.469+160C>A
Search 100 bp 5'
Search 100 bp 3'