Canonical Allele Identifier: CA2693633190
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48528214-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528214T>C , CM000685.2:g.48528214T>C GRCh38
NC_000023.10:g.48386602T>C , CM000685.1:g.48386602T>C GRCh37
NC_000023.9:g.48271546T>C NCBI36
NG_007452.1:g.11439T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.470-20T>C MANE Select ENSP00000417052.1:n.470-20T>C
ENST00000651615.1:c.469+929T>C ENSP00000498524.1:n.469+929T>C
ENST00000276096.10:n.428-20T>C
ENST00000446158.5:c.470-20T>C ENSP00000390031.1:n.470-20T>C
ENST00000495186.5:c.470-20T>C ENSP00000417052.1:n.470-20T>C
ENST00000498425.1:n.591-20T>C
NM_006579.2:c.470-20T>C NP_006570.1:n.470-20T>C
NM_006579.3:c.470-20T>C MANE Select NP_006570.1:n.470-20T>C
Search 100 bp 5'
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