Canonical Allele Identifier: CA10403025

Gene: EBP

Linked Data

• ClinVar Variation Id: 1019011
• ClinVar RCV Id: RCV001318387 ; RCV002543749 ; RCV003953658
• dbSNP Id: rs148792902
• ExAC: X:48385545 G / T
• gnomAD v2: X-48385545-G-T
• gnomAD v3: X-48527157-G-T
• gnomAD v4: X-48527157-G-T
• MyVariant Identifiers: chrX:g.48385545G>T (hg19) ; chrX:g.48527157G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527157G>T , CM000685.2:g.48527157G>T	GRCh38
NC_000023.10:g.48385545G>T , CM000685.1:g.48385545G>T	GRCh37
NC_000023.9:g.48270489G>T	NCBI36
NG_007452.1:g.10382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.341G>T MANE Select	ENSP00000417052.1:p.Gly114Val
ENST00000651615.1:c.341G>T	ENSP00000498524.1:p.Gly114Val
ENST00000276096.10:n.299G>T
ENST00000414061.1:c.341G>T	ENSP00000405832.1:p.Gly114Val
ENST00000446158.5:c.341G>T	ENSP00000390031.1:p.Gly114Val
ENST00000466461.1:n.180G>T
ENST00000495186.5:c.341G>T	ENSP00000417052.1:p.Gly114Val
ENST00000498425.1:n.462G>T
NM_006579.2:c.341G>T	NP_006570.1:p.Gly114Val
NM_006579.3:c.341G>T MANE Select	NP_006570.1:p.Gly114Val