Canonical Allele Identifier: CA641500251
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs901498445
gnomAD v2: X-48386569-G-A
gnomAD v3: X-48528181-G-A
gnomAD v4: X-48528181-G-A
COSMIC: COSN19691362
MyVariant Identifiers: chrX:g.48386569G>A (hg19) chrX:g.48528181G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528181G>A , CM000685.2:g.48528181G>A GRCh38
NC_000023.10:g.48386569G>A , CM000685.1:g.48386569G>A GRCh37
NC_000023.9:g.48271513G>A NCBI36
NG_007452.1:g.11406G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.470-53G>A MANE Select ENSP00000417052.1:n.470-53G>A
ENST00000651615.1:c.469+896G>A ENSP00000498524.1:n.469+896G>A
ENST00000276096.10:n.428-53G>A
ENST00000446158.5:c.470-53G>A ENSP00000390031.1:n.470-53G>A
ENST00000495186.5:c.470-53G>A ENSP00000417052.1:n.470-53G>A
ENST00000498425.1:n.591-53G>A
NM_006579.2:c.470-53G>A NP_006570.1:n.470-53G>A
NM_006579.3:c.470-53G>A MANE Select NP_006570.1:n.470-53G>A
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