Canonical Allele Identifier: CA271459
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158539
ClinVar RCV Id: RCV000145931
dbSNP Id: rs587783607
MyVariant Identifiers: chrX:g.48385378G>T (hg19) chrX:g.48526990G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48526990G>T , CM000685.2:g.48526990G>T GRCh38
NC_000023.10:g.48385378G>T , CM000685.1:g.48385378G>T GRCh37
NC_000023.9:g.48270322G>T NCBI36
NG_007452.1:g.10215G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.303G>T MANE Select ENSP00000417052.1:p.Trp101Cys
ENST00000651615.1:c.303G>T ENSP00000498524.1:p.Trp101Cys
ENST00000276096.10:n.261G>T
ENST00000414061.1:c.303G>T ENSP00000405832.1:p.Trp101Cys
ENST00000446158.5:c.303G>T ENSP00000390031.1:p.Trp101Cys
ENST00000466461.1:n.142G>T
ENST00000495186.5:c.303G>T ENSP00000417052.1:p.Trp101Cys
ENST00000498425.1:n.424G>T
NM_006579.2:c.303G>T NP_006570.1:p.Trp101Cys
NM_006579.3:c.303G>T MANE Select NP_006570.1:p.Trp101Cys
Search 100 bp 5'
Search 100 bp 3'