Canonical Allele Identifier: CA641901569

Gene: EBP

Linked Data

• dbSNP Id: rs782002953
• gnomAD v2: X-48385459-G-A
• gnomAD v3: X-48527071-G-A
• gnomAD v4: X-48527071-G-A
• MyVariant Identifiers: chrX:g.48385459G>A (hg19) ; chrX:g.48527071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527071G>A , CM000685.2:g.48527071G>A	GRCh38
NC_000023.10:g.48385459G>A , CM000685.1:g.48385459G>A	GRCh37
NC_000023.9:g.48270403G>A	NCBI36
NG_007452.1:g.10296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.338+46G>A MANE Select	ENSP00000417052.1:n.338+46G>A
ENST00000651615.1:c.338+46G>A	ENSP00000498524.1:n.338+46G>A
ENST00000276096.10:n.296+46G>A
ENST00000414061.1:c.338+46G>A	ENSP00000405832.1:n.338+46G>A
ENST00000446158.5:c.338+46G>A	ENSP00000390031.1:n.338+46G>A
ENST00000466461.1:n.177+46G>A
ENST00000495186.5:c.338+46G>A	ENSP00000417052.1:n.338+46G>A
ENST00000498425.1:n.459+46G>A
NM_006579.2:c.338+46G>A	NP_006570.1:n.338+46G>A
NM_006579.3:c.338+46G>A MANE Select	NP_006570.1:n.338+46G>A