Canonical Allele Identifier: CA412852935
Gene: EBP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48386680C>A (hg19) chrX:g.48528292C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528292C>A , CM000685.2:g.48528292C>A GRCh38
NC_000023.10:g.48386680C>A , CM000685.1:g.48386680C>A GRCh37
NC_000023.9:g.48271624C>A NCBI36
NG_007452.1:g.11517C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.528C>A MANE Select ENSP00000417052.1:p.His176Gln
ENST00000651615.1:c.469+1007C>A ENSP00000498524.1:n.469+1007C>A
ENST00000276096.10:n.486C>A
ENST00000495186.5:c.528C>A ENSP00000417052.1:p.His176Gln
ENST00000498425.1:n.649C>A
NM_006579.2:c.528C>A NP_006570.1:p.His176Gln
NM_006579.3:c.528C>A MANE Select NP_006570.1:p.His176Gln
Search 100 bp 5'
Search 100 bp 3'