Canonical Allele Identifier: CA329072298

Gene: EBP

Linked Data

• dbSNP Id: rs1049367
• MyVariant Identifiers: chrX:g.48382163A>G (hg19) ; chrX:g.48523775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48523775A>G , CM000685.2:g.48523775A>G	GRCh38
NC_000023.10:g.48382163A>G , CM000685.1:g.48382163A>G	GRCh37
NC_000023.9:g.48267107A>G	NCBI36
NG_007452.1:g.7000A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.4A>G MANE Select	ENSP00000417052.1:p.Thr2Ala
ENST00000651615.1:c.4A>G	ENSP00000498524.1:p.Thr2Ala
ENST00000276096.10:n.110-148A>G
ENST00000414061.1:c.4A>G	ENSP00000405832.1:p.Thr2Ala
ENST00000446158.5:c.4A>G	ENSP00000390031.1:p.Thr2Ala
ENST00000495186.5:c.4A>G	ENSP00000417052.1:p.Thr2Ala
ENST00000498425.1:n.125A>G
NM_006579.2:c.4A>G	NP_006570.1:p.Thr2Ala
NM_006579.3:c.4A>G MANE Select	NP_006570.1:p.Thr2Ala