Canonical Allele Identifier: CA412852570

Gene: EBP

Linked Data

• dbSNP Id: rs1556977585
• gnomAD v2: X-48385622-T-C
• gnomAD v4: X-48527234-T-C
• MyVariant Identifiers: chrX:g.48385622T>C (hg19) ; chrX:g.48527234T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527234T>C , CM000685.2:g.48527234T>C	GRCh38
NC_000023.10:g.48385622T>C , CM000685.1:g.48385622T>C	GRCh37
NC_000023.9:g.48270566T>C	NCBI36
NG_007452.1:g.10459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.418T>C MANE Select	ENSP00000417052.1:p.Phe140Leu
ENST00000651615.1:c.418T>C	ENSP00000498524.1:p.Phe140Leu
ENST00000276096.10:n.376T>C
ENST00000414061.1:c.418T>C	ENSP00000405832.1:p.Phe140Leu
ENST00000446158.5:c.418T>C	ENSP00000390031.1:p.Phe140Leu
ENST00000466461.1:n.257T>C
ENST00000495186.5:c.418T>C	ENSP00000417052.1:p.Phe140Leu
ENST00000498425.1:n.539T>C
NM_006579.2:c.418T>C	NP_006570.1:p.Phe140Leu
NM_006579.3:c.418T>C MANE Select	NP_006570.1:p.Phe140Leu