Canonical Allele Identifier: CA412852328

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48385564C>G (hg19) ; chrX:g.48527176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527176C>G , CM000685.2:g.48527176C>G	GRCh38
NC_000023.10:g.48385564C>G , CM000685.1:g.48385564C>G	GRCh37
NC_000023.9:g.48270508C>G	NCBI36
NG_007452.1:g.10401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.360C>G MANE Select	ENSP00000417052.1:p.Cys120Trp
ENST00000651615.1:c.360C>G	ENSP00000498524.1:p.Cys120Trp
ENST00000276096.10:n.318C>G
ENST00000414061.1:c.360C>G	ENSP00000405832.1:p.Cys120Trp
ENST00000446158.5:c.360C>G	ENSP00000390031.1:p.Cys120Trp
ENST00000466461.1:n.199C>G
ENST00000495186.5:c.360C>G	ENSP00000417052.1:p.Cys120Trp
ENST00000498425.1:n.481C>G
NM_006579.2:c.360C>G	NP_006570.1:p.Cys120Trp
NM_006579.3:c.360C>G MANE Select	NP_006570.1:p.Cys120Trp