Canonical Allele Identifier: CA10403054
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs782271192
ExAC: X:48386680 C / T
gnomAD v2: X-48386680-C-T
gnomAD v3: X-48528292-C-T
gnomAD v4: X-48528292-C-T
MyVariant Identifiers: chrX:g.48386680C>T (hg19) chrX:g.48528292C>T (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.528C>T MANE Select ENSP00000417052.1:p.His176=
ENST00000651615.1:c.469+1007C>T ENSP00000498524.1:n.469+1007C>T
ENST00000276096.10:n.486C>T
ENST00000495186.5:c.528C>T ENSP00000417052.1:p.His176=
ENST00000498425.1:n.649C>T
NM_006579.2:c.528C>T NP_006570.1:p.His176=
NM_006579.3:c.528C>T MANE Select NP_006570.1:p.His176=
Search 100 bp 5'
Search 100 bp 3'