Canonical Allele Identifier: CA516015763
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs2147156558
MyVariant Identifiers: chrX:g.48385663G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527275G>A , CM000685.2:g.48527275G>A GRCh38
NC_000023.10:g.48385663G>A , CM000685.1:g.48385663G>A GRCh37
NC_000023.9:g.48270607G>A NCBI36
NG_007452.1:g.10500G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.459G>A MANE Select ENSP00000417052.1:p.Val153=
ENST00000651615.1:c.459G>A ENSP00000498524.1:p.Val153=
ENST00000276096.10:n.417G>A
ENST00000446158.5:c.459G>A ENSP00000390031.1:p.Val153=
ENST00000466461.1:n.298G>A
ENST00000495186.5:c.459G>A ENSP00000417052.1:p.Val153=
ENST00000498425.1:n.580G>A
NM_006579.2:c.459G>A NP_006570.1:p.Val153=
NM_006579.3:c.459G>A MANE Select NP_006570.1:p.Val153=