Canonical Allele Identifier: CA412852560
Gene: EBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527228A>T , CM000685.2:g.48527228A>T GRCh38
NC_000023.10:g.48385616A>T , CM000685.1:g.48385616A>T GRCh37
NC_000023.9:g.48270560A>T NCBI36
NG_007452.1:g.10453A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.412A>T MANE Select ENSP00000417052.1:p.Ile138Phe
ENST00000651615.1:c.412A>T ENSP00000498524.1:p.Ile138Phe
ENST00000276096.10:n.370A>T
ENST00000414061.1:c.412A>T ENSP00000405832.1:p.Ile138Phe
ENST00000446158.5:c.412A>T ENSP00000390031.1:p.Ile138Phe
ENST00000466461.1:n.251A>T
ENST00000495186.5:c.412A>T ENSP00000417052.1:p.Ile138Phe
ENST00000498425.1:n.533A>T
NM_006579.2:c.412A>T NP_006570.1:p.Ile138Phe
NM_006579.3:c.412A>T MANE Select NP_006570.1:p.Ile138Phe