Canonical Allele Identifier: CA412852468

Gene: EBP

Linked Data

• dbSNP Id: rs2061781947
• MyVariant Identifiers: chrX:g.48385593G>A (hg19) ; chrX:g.48527205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527205G>A , CM000685.2:g.48527205G>A	GRCh38
NC_000023.10:g.48385593G>A , CM000685.1:g.48385593G>A	GRCh37
NC_000023.9:g.48270537G>A	NCBI36
NG_007452.1:g.10430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.389G>A MANE Select	ENSP00000417052.1:p.Gly130Glu
ENST00000651615.1:c.389G>A	ENSP00000498524.1:p.Gly130Glu
ENST00000276096.10:n.347G>A
ENST00000414061.1:c.389G>A	ENSP00000405832.1:p.Gly130Glu
ENST00000446158.5:c.389G>A	ENSP00000390031.1:p.Gly130Glu
ENST00000466461.1:n.228G>A
ENST00000495186.5:c.389G>A	ENSP00000417052.1:p.Gly130Glu
ENST00000498425.1:n.510G>A
NM_006579.2:c.389G>A	NP_006570.1:p.Gly130Glu
NM_006579.3:c.389G>A MANE Select	NP_006570.1:p.Gly130Glu