Canonical Allele Identifier: CA271465

Gene: EBP

Linked Data

• ClinVar Variation Id: 158542
• ClinVar RCV Id: RCV000145934
• dbSNP Id: rs587783610
• MyVariant Identifiers: chrX:g.48385386A>G (hg19) ; chrX:g.48526998A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48526998A>G , CM000685.2:g.48526998A>G	GRCh38
NC_000023.10:g.48385386A>G , CM000685.1:g.48385386A>G	GRCh37
NC_000023.9:g.48270330A>G	NCBI36
NG_007452.1:g.10223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.311A>G MANE Select	ENSP00000417052.1:p.Tyr104Cys
ENST00000651615.1:c.311A>G	ENSP00000498524.1:p.Tyr104Cys
ENST00000276096.10:n.269A>G
ENST00000414061.1:c.311A>G	ENSP00000405832.1:p.Tyr104Cys
ENST00000446158.5:c.311A>G	ENSP00000390031.1:p.Tyr104Cys
ENST00000466461.1:n.150A>G
ENST00000495186.5:c.311A>G	ENSP00000417052.1:p.Tyr104Cys
ENST00000498425.1:n.432A>G
NM_006579.2:c.311A>G	NP_006570.1:p.Tyr104Cys
NM_006579.3:c.311A>G MANE Select	NP_006570.1:p.Tyr104Cys