Canonical Allele Identifier: CA412852523

Gene: EBP

Linked Data

• MyVariant Identifiers: chrX:g.48385607T>A (hg19) ; chrX:g.48527219T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527219T>A , CM000685.2:g.48527219T>A	GRCh38
NC_000023.10:g.48385607T>A , CM000685.1:g.48385607T>A	GRCh37
NC_000023.9:g.48270551T>A	NCBI36
NG_007452.1:g.10444T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.403T>A MANE Select	ENSP00000417052.1:p.Trp135Arg
ENST00000651615.1:c.403T>A	ENSP00000498524.1:p.Trp135Arg
ENST00000276096.10:n.361T>A
ENST00000414061.1:c.403T>A	ENSP00000405832.1:p.Trp135Arg
ENST00000446158.5:c.403T>A	ENSP00000390031.1:p.Trp135Arg
ENST00000466461.1:n.242T>A
ENST00000495186.5:c.403T>A	ENSP00000417052.1:p.Trp135Arg
ENST00000498425.1:n.524T>A
NM_006579.2:c.403T>A	NP_006570.1:p.Trp135Arg
NM_006579.3:c.403T>A MANE Select	NP_006570.1:p.Trp135Arg