Canonical Allele Identifier: CA10403039
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs782008789
ExAC: X:48385721 G / A
gnomAD v2: X-48385721-G-A
gnomAD v4: X-48527333-G-A
MyVariant Identifiers: chrX:g.48385721G>A (hg19) chrX:g.48527333G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527333G>A , CM000685.2:g.48527333G>A GRCh38
NC_000023.10:g.48385721G>A , CM000685.1:g.48385721G>A GRCh37
NC_000023.9:g.48270665G>A NCBI36
NG_007452.1:g.10558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.469+48G>A MANE Select ENSP00000417052.1:n.469+48G>A
ENST00000651615.1:c.469+48G>A ENSP00000498524.1:n.469+48G>A
ENST00000276096.10:n.427+48G>A
ENST00000446158.5:c.469+48G>A ENSP00000390031.1:n.469+48G>A
ENST00000466461.1:n.356G>A
ENST00000495186.5:c.469+48G>A ENSP00000417052.1:n.469+48G>A
ENST00000498425.1:n.590+48G>A
NM_006579.2:c.469+48G>A NP_006570.1:n.469+48G>A
NM_006579.3:c.469+48G>A MANE Select NP_006570.1:n.469+48G>A
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