Canonical Allele Identifier: CA271482
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158552
ClinVar RCV Id: RCV000145944 RCV002247537
dbSNP Id: rs587783618
MyVariant Identifiers: chrX:g.48386679A>G (hg19) chrX:g.48528291A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528291A>G , CM000685.2:g.48528291A>G GRCh38
NC_000023.10:g.48386679A>G , CM000685.1:g.48386679A>G GRCh37
NC_000023.9:g.48271623A>G NCBI36
NG_007452.1:g.11516A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.527A>G MANE Select ENSP00000417052.1:p.His176Arg
ENST00000651615.1:c.469+1006A>G ENSP00000498524.1:n.469+1006A>G
ENST00000276096.10:n.485A>G
ENST00000495186.5:c.527A>G ENSP00000417052.1:p.His176Arg
ENST00000498425.1:n.648A>G
NM_006579.2:c.527A>G NP_006570.1:p.His176Arg
NM_006579.3:c.527A>G MANE Select NP_006570.1:p.His176Arg
Search 100 bp 5'
Search 100 bp 3'