Canonical Allele Identifier: CA1132939241
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs2061782827
gnomAD v3: X-48527470-G-T
gnomAD v4: X-48527470-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527470G>T , CM000685.2:g.48527470G>T GRCh38
NC_000023.10:g.48385858G>T , CM000685.1:g.48385858G>T GRCh37
NC_000023.9:g.48270802G>T NCBI36
NG_007452.1:g.10695G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+185G>T MANE Select ENSP00000417052.1:n.469+185G>T
ENST00000651615.1:c.469+185G>T ENSP00000498524.1:n.469+185G>T
ENST00000276096.10:n.427+185G>T
ENST00000446158.5:c.469+185G>T ENSP00000390031.1:n.469+185G>T
ENST00000466461.1:n.493G>T
ENST00000495186.5:c.469+185G>T ENSP00000417052.1:n.469+185G>T
ENST00000498425.1:n.590+185G>T
NM_006579.2:c.469+185G>T NP_006570.1:n.469+185G>T
NM_006579.3:c.469+185G>T MANE Select NP_006570.1:n.469+185G>T
Search 100 bp 5'
Search 100 bp 3'