Canonical Allele Identifier: CA10403034
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1597686
ClinVar RCV Id: RCV002119989
dbSNP Id: rs782153209
ExAC: X:48385682 A / G
gnomAD v2: X-48385682-A-G
gnomAD v3: X-48527294-A-G
gnomAD v4: X-48527294-A-G
MyVariant Identifiers: chrX:g.48385682A>G (hg19) chrX:g.48527294A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527294A>G , CM000685.2:g.48527294A>G GRCh38
NC_000023.10:g.48385682A>G , CM000685.1:g.48385682A>G GRCh37
NC_000023.9:g.48270626A>G NCBI36
NG_007452.1:g.10519A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+9A>G MANE Select ENSP00000417052.1:n.469+9A>G
ENST00000651615.1:c.469+9A>G ENSP00000498524.1:n.469+9A>G
ENST00000276096.10:n.427+9A>G
ENST00000446158.5:c.469+9A>G ENSP00000390031.1:n.469+9A>G
ENST00000466461.1:n.317A>G
ENST00000495186.5:c.469+9A>G ENSP00000417052.1:n.469+9A>G
ENST00000498425.1:n.590+9A>G
NM_006579.2:c.469+9A>G NP_006570.1:n.469+9A>G
NM_006579.3:c.469+9A>G MANE Select NP_006570.1:n.469+9A>G
Search 100 bp 5'
Search 100 bp 3'