Canonical Allele Identifier: CA10588787

Gene: EBP

Linked Data

• ClinVar Variation Id: 265110
• ClinVar RCV Id: RCV000255335 ; RCV001824133
• dbSNP Id: rs886039345
• MyVariant Identifiers: chrX:g.48385643C>T (hg19) ; chrX:g.48527255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527255C>T , CM000685.2:g.48527255C>T	GRCh38
NC_000023.10:g.48385643C>T , CM000685.1:g.48385643C>T	GRCh37
NC_000023.9:g.48270587C>T	NCBI36
NG_007452.1:g.10480C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.439C>T MANE Select	ENSP00000417052.1:p.Arg147Cys
ENST00000651615.1:c.439C>T	ENSP00000498524.1:p.Arg147Cys
ENST00000276096.10:n.397C>T
ENST00000446158.5:c.439C>T	ENSP00000390031.1:p.Arg147Cys
ENST00000466461.1:n.278C>T
ENST00000495186.5:c.439C>T	ENSP00000417052.1:p.Arg147Cys
ENST00000498425.1:n.560C>T
NM_006579.2:c.439C>T	NP_006570.1:p.Arg147Cys
NM_006579.3:c.439C>T MANE Select	NP_006570.1:p.Arg147Cys