Canonical Allele Identifier: CA271461

Gene: EBP

Linked Data

• ClinVar Variation Id: 158540
• ClinVar RCV Id: RCV000145932
• dbSNP Id: rs587783608
• MyVariant Identifiers: chrX:g.48385379A>T (hg19) ; chrX:g.48526991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48526991A>T , CM000685.2:g.48526991A>T	GRCh38
NC_000023.10:g.48385379A>T , CM000685.1:g.48385379A>T	GRCh37
NC_000023.9:g.48270323A>T	NCBI36
NG_007452.1:g.10216A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.304A>T MANE Select	ENSP00000417052.1:p.Lys102Ter
ENST00000651615.1:c.304A>T	ENSP00000498524.1:p.Lys102Ter
ENST00000276096.10:n.262A>T
ENST00000414061.1:c.304A>T	ENSP00000405832.1:p.Lys102Ter
ENST00000446158.5:c.304A>T	ENSP00000390031.1:p.Lys102Ter
ENST00000466461.1:n.143A>T
ENST00000495186.5:c.304A>T	ENSP00000417052.1:p.Lys102Ter
ENST00000498425.1:n.425A>T
NM_006579.2:c.304A>T	NP_006570.1:p.Lys102Ter
NM_006579.3:c.304A>T MANE Select	NP_006570.1:p.Lys102Ter