Canonical Allele Identifier: CA516015310

Gene: EBP

Linked Data

• dbSNP Id: rs2061781908
• gnomAD v3: X-48527200-G-A
• gnomAD v4: X-48527200-G-A
• MyVariant Identifiers: chrX:g.48385588G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527200G>A , CM000685.2:g.48527200G>A	GRCh38
NC_000023.10:g.48385588G>A , CM000685.1:g.48385588G>A	GRCh37
NC_000023.9:g.48270532G>A	NCBI36
NG_007452.1:g.10425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.384G>A MANE Select	ENSP00000417052.1:p.Leu128=
ENST00000651615.1:c.384G>A	ENSP00000498524.1:p.Leu128=
ENST00000276096.10:n.342G>A
ENST00000414061.1:c.384G>A	ENSP00000405832.1:p.Leu128=
ENST00000446158.5:c.384G>A	ENSP00000390031.1:p.Leu128=
ENST00000466461.1:n.223G>A
ENST00000495186.5:c.384G>A	ENSP00000417052.1:p.Leu128=
ENST00000498425.1:n.505G>A
NM_006579.2:c.384G>A	NP_006570.1:p.Leu128=
NM_006579.3:c.384G>A MANE Select	NP_006570.1:p.Leu128=