Canonical Allele Identifier: CA412852687

Gene: EBP

Linked Data

• COSMIC: COSM3783608
• MyVariant Identifiers: chrX:g.48386620A>T (hg19) ; chrX:g.48528232A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48528232A>T , CM000685.2:g.48528232A>T	GRCh38
NC_000023.10:g.48386620A>T , CM000685.1:g.48386620A>T	GRCh37
NC_000023.9:g.48271564A>T	NCBI36
NG_007452.1:g.11457A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.470-2A>T MANE Select	ENSP00000417052.1:n.470-2A>T
ENST00000651615.1:c.469+947A>T	ENSP00000498524.1:n.469+947A>T
ENST00000276096.10:n.428-2A>T
ENST00000446158.5:c.470-2A>T	ENSP00000390031.1:n.470-2A>T
ENST00000495186.5:c.470-2A>T	ENSP00000417052.1:n.470-2A>T
ENST00000498425.1:n.591-2A>T
NM_006579.2:c.470-2A>T	NP_006570.1:n.470-2A>T
NM_006579.3:c.470-2A>T MANE Select	NP_006570.1:n.470-2A>T