Canonical Allele Identifier: CA271453
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158535
ClinVar RCV Id: RCV000145927
dbSNP Id: rs587783603
MyVariant Identifiers: chrX:g.48382377G>A (hg19) chrX:g.48523989G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48523989G>A , CM000685.2:g.48523989G>A GRCh38
NC_000023.10:g.48382377G>A , CM000685.1:g.48382377G>A GRCh37
NC_000023.9:g.48267321G>A NCBI36
NG_007452.1:g.7214G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.218G>A MANE Select ENSP00000417052.1:p.Gly73Glu
ENST00000651615.1:c.218G>A ENSP00000498524.1:p.Gly73Glu
ENST00000276096.10:n.176G>A
ENST00000414061.1:c.218G>A ENSP00000405832.1:p.Gly73Glu
ENST00000446158.5:c.218G>A ENSP00000390031.1:p.Gly73Glu
ENST00000495186.5:c.218G>A ENSP00000417052.1:p.Gly73Glu
ENST00000498425.1:n.339G>A
NM_006579.2:c.218G>A NP_006570.1:p.Gly73Glu
NM_006579.3:c.218G>A MANE Select NP_006570.1:p.Gly73Glu
Search 100 bp 5'
Search 100 bp 3'