Canonical Allele Identifier: CA412852280

Gene: EBP

Linked Data

• dbSNP Id: rs1556977569
• gnomAD v2: X-48385551-A-G
• gnomAD v4: X-48527163-A-G
• MyVariant Identifiers: chrX:g.48385551A>G (hg19) ; chrX:g.48527163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527163A>G , CM000685.2:g.48527163A>G	GRCh38
NC_000023.10:g.48385551A>G , CM000685.1:g.48385551A>G	GRCh37
NC_000023.9:g.48270495A>G	NCBI36
NG_007452.1:g.10388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.347A>G MANE Select	ENSP00000417052.1:p.Asn116Ser
ENST00000651615.1:c.347A>G	ENSP00000498524.1:p.Asn116Ser
ENST00000276096.10:n.305A>G
ENST00000414061.1:c.347A>G	ENSP00000405832.1:p.Asn116Ser
ENST00000446158.5:c.347A>G	ENSP00000390031.1:p.Asn116Ser
ENST00000466461.1:n.186A>G
ENST00000495186.5:c.347A>G	ENSP00000417052.1:p.Asn116Ser
ENST00000498425.1:n.468A>G
NM_006579.2:c.347A>G	NP_006570.1:p.Asn116Ser
NM_006579.3:c.347A>G MANE Select	NP_006570.1:p.Asn116Ser