Canonical Allele Identifier: CA10403015

Gene: EBP

Linked Data

• dbSNP Id: rs782635680
• ExAC: X:48385452 T / G
• gnomAD v2: X-48385452-T-G
• gnomAD v3: X-48527064-T-G
• gnomAD v4: X-48527064-T-G
• MyVariant Identifiers: chrX:g.48385452T>G (hg19) ; chrX:g.48527064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527064T>G , CM000685.2:g.48527064T>G	GRCh38
NC_000023.10:g.48385452T>G , CM000685.1:g.48385452T>G	GRCh37
NC_000023.9:g.48270396T>G	NCBI36
NG_007452.1:g.10289T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.338+39T>G MANE Select	ENSP00000417052.1:n.338+39T>G
ENST00000651615.1:c.338+39T>G	ENSP00000498524.1:n.338+39T>G
ENST00000276096.10:n.296+39T>G
ENST00000414061.1:c.338+39T>G	ENSP00000405832.1:n.338+39T>G
ENST00000446158.5:c.338+39T>G	ENSP00000390031.1:n.338+39T>G
ENST00000466461.1:n.177+39T>G
ENST00000495186.5:c.338+39T>G	ENSP00000417052.1:n.338+39T>G
ENST00000498425.1:n.459+39T>G
NM_006579.2:c.338+39T>G	NP_006570.1:n.338+39T>G
NM_006579.3:c.338+39T>G MANE Select	NP_006570.1:n.338+39T>G