Canonical Allele Identifier: CA2693632398
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48527410-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527410T>A , CM000685.2:g.48527410T>A GRCh38
NC_000023.10:g.48385798T>A , CM000685.1:g.48385798T>A GRCh37
NC_000023.9:g.48270742T>A NCBI36
NG_007452.1:g.10635T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+125T>A MANE Select ENSP00000417052.1:n.469+125T>A
ENST00000651615.1:c.469+125T>A ENSP00000498524.1:n.469+125T>A
ENST00000276096.10:n.427+125T>A
ENST00000446158.5:c.469+125T>A ENSP00000390031.1:n.469+125T>A
ENST00000466461.1:n.433T>A
ENST00000495186.5:c.469+125T>A ENSP00000417052.1:n.469+125T>A
ENST00000498425.1:n.590+125T>A
NM_006579.2:c.469+125T>A NP_006570.1:n.469+125T>A
NM_006579.3:c.469+125T>A MANE Select NP_006570.1:n.469+125T>A
Search 100 bp 5'
Search 100 bp 3'