Canonical Allele Identifier: CA255900
Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 11485
dbSNP Id: rs104894800

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48524009G>A , CM000685.2:g.48524009G>A GRCh38
NC_000023.10:g.48382397G>A , CM000685.1:g.48382397G>A GRCh37
NC_000023.9:g.48267341G>A NCBI36
NG_007452.1:g.7234G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.238G>A MANE Select ENSP00000417052.1:p.Glu80Lys
ENST00000651615.1:c.238G>A ENSP00000498524.1:p.Glu80Lys
ENST00000276096.10:n.196G>A
ENST00000414061.1:c.238G>A ENSP00000405832.1:p.Glu80Lys
ENST00000446158.5:c.238G>A ENSP00000390031.1:p.Glu80Lys
ENST00000495186.5:c.238G>A ENSP00000417052.1:p.Glu80Lys
ENST00000498425.1:n.359G>A
NM_006579.2:c.238G>A NP_006570.1:p.Glu80Lys
NM_006579.3:c.238G>A MANE Select NP_006570.1:p.Glu80Lys