Canonical Allele Identifier: CA10403009

Gene: EBP

Linked Data

• dbSNP Id: rs587783612
• ExAC: X:48385395 G / C
• gnomAD v2: X-48385395-G-C
• MyVariant Identifiers: chrX:g.48385395G>C (hg19) ; chrX:g.48527007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527007G>C , CM000685.2:g.48527007G>C	GRCh38
NC_000023.10:g.48385395G>C , CM000685.1:g.48385395G>C	GRCh37
NC_000023.9:g.48270339G>C	NCBI36
NG_007452.1:g.10232G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.320G>C MANE Select	ENSP00000417052.1:p.Gly107Ala
ENST00000651615.1:c.320G>C	ENSP00000498524.1:p.Gly107Ala
ENST00000276096.10:n.278G>C
ENST00000414061.1:c.320G>C	ENSP00000405832.1:p.Gly107Ala
ENST00000446158.5:c.320G>C	ENSP00000390031.1:p.Gly107Ala
ENST00000466461.1:n.159G>C
ENST00000495186.5:c.320G>C	ENSP00000417052.1:p.Gly107Ala
ENST00000498425.1:n.441G>C
NM_006579.2:c.320G>C	NP_006570.1:p.Gly107Ala
NM_006579.3:c.320G>C MANE Select	NP_006570.1:p.Gly107Ala