Canonical Allele Identifier: CA2693632439
Gene: EBP HGNC NCBI

Linked Data

gnomAD v4: X-48527462-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527462T>C , CM000685.2:g.48527462T>C GRCh38
NC_000023.10:g.48385850T>C , CM000685.1:g.48385850T>C GRCh37
NC_000023.9:g.48270794T>C NCBI36
NG_007452.1:g.10687T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+177T>C MANE Select ENSP00000417052.1:n.469+177T>C
ENST00000651615.1:c.469+177T>C ENSP00000498524.1:n.469+177T>C
ENST00000276096.10:n.427+177T>C
ENST00000446158.5:c.469+177T>C ENSP00000390031.1:n.469+177T>C
ENST00000466461.1:n.485T>C
ENST00000495186.5:c.469+177T>C ENSP00000417052.1:n.469+177T>C
ENST00000498425.1:n.590+177T>C
NM_006579.2:c.469+177T>C NP_006570.1:n.469+177T>C
NM_006579.3:c.469+177T>C MANE Select NP_006570.1:n.469+177T>C
Search 100 bp 5'
Search 100 bp 3'