Canonical Allele Identifier: CA10403036

Gene: EBP

Linked Data

• dbSNP Id: rs781925754
• ExAC: X:48385698 A / C
• gnomAD v2: X-48385698-A-C
• gnomAD v4: X-48527310-A-C
• MyVariant Identifiers: chrX:g.48385698A>C (hg19) ; chrX:g.48527310A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527310A>C , CM000685.2:g.48527310A>C	GRCh38
NC_000023.10:g.48385698A>C , CM000685.1:g.48385698A>C	GRCh37
NC_000023.9:g.48270642A>C	NCBI36
NG_007452.1:g.10535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+25A>C MANE Select	ENSP00000417052.1:n.469+25A>C
ENST00000651615.1:c.469+25A>C	ENSP00000498524.1:n.469+25A>C
ENST00000276096.10:n.427+25A>C
ENST00000446158.5:c.469+25A>C	ENSP00000390031.1:n.469+25A>C
ENST00000466461.1:n.333A>C
ENST00000495186.5:c.469+25A>C	ENSP00000417052.1:n.469+25A>C
ENST00000498425.1:n.590+25A>C
NM_006579.2:c.469+25A>C	NP_006570.1:n.469+25A>C
NM_006579.3:c.469+25A>C MANE Select	NP_006570.1:n.469+25A>C