Canonical Allele Identifier: CA2579599797
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48527347-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527347A>C , CM000685.2:g.48527347A>C GRCh38
NC_000023.10:g.48385735A>C , CM000685.1:g.48385735A>C GRCh37
NC_000023.9:g.48270679A>C NCBI36
NG_007452.1:g.10572A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+62A>C MANE Select ENSP00000417052.1:n.469+62A>C
ENST00000651615.1:c.469+62A>C ENSP00000498524.1:n.469+62A>C
ENST00000276096.10:n.427+62A>C
ENST00000446158.5:c.469+62A>C ENSP00000390031.1:n.469+62A>C
ENST00000466461.1:n.370A>C
ENST00000495186.5:c.469+62A>C ENSP00000417052.1:n.469+62A>C
ENST00000498425.1:n.590+62A>C
NM_006579.2:c.469+62A>C NP_006570.1:n.469+62A>C
NM_006579.3:c.469+62A>C MANE Select NP_006570.1:n.469+62A>C
Search 100 bp 5'
Search 100 bp 3'