Canonical Allele Identifier: CA10402971

Gene: EBP

Linked Data

• dbSNP Id: rs782262884
• ExAC: X:48382253 C / T
• gnomAD v2: X-48382253-C-T
• gnomAD v3: X-48523865-C-T
• gnomAD v4: X-48523865-C-T
• MyVariant Identifiers: chrX:g.48382253C>T (hg19) ; chrX:g.48523865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48523865C>T , CM000685.2:g.48523865C>T	GRCh38
NC_000023.10:g.48382253C>T , CM000685.1:g.48382253C>T	GRCh37
NC_000023.9:g.48267197C>T	NCBI36
NG_007452.1:g.7090C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.94C>T MANE Select	ENSP00000417052.1:p.Leu32=
ENST00000651615.1:c.94C>T	ENSP00000498524.1:p.Leu32=
ENST00000276096.10:n.110-58C>T
ENST00000414061.1:c.94C>T	ENSP00000405832.1:p.Leu32=
ENST00000446158.5:c.94C>T	ENSP00000390031.1:p.Leu32=
ENST00000495186.5:c.94C>T	ENSP00000417052.1:p.Leu32=
ENST00000498425.1:n.215C>T
NM_006579.2:c.94C>T	NP_006570.1:p.Leu32=
NM_006579.3:c.94C>T MANE Select	NP_006570.1:p.Leu32=