Canonical Allele Identifier: CA412852487
Gene: EBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527210C>G , CM000685.2:g.48527210C>G GRCh38
NC_000023.10:g.48385598C>G , CM000685.1:g.48385598C>G GRCh37
NC_000023.9:g.48270542C>G NCBI36
NG_007452.1:g.10435C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.394C>G MANE Select ENSP00000417052.1:p.Leu132Val
ENST00000651615.1:c.394C>G ENSP00000498524.1:p.Leu132Val
ENST00000276096.10:n.352C>G
ENST00000414061.1:c.394C>G ENSP00000405832.1:p.Leu132Val
ENST00000446158.5:c.394C>G ENSP00000390031.1:p.Leu132Val
ENST00000466461.1:n.233C>G
ENST00000495186.5:c.394C>G ENSP00000417052.1:p.Leu132Val
ENST00000498425.1:n.515C>G
NM_006579.2:c.394C>G NP_006570.1:p.Leu132Val
NM_006579.3:c.394C>G MANE Select NP_006570.1:p.Leu132Val