Canonical Allele Identifier: CA412852120
Gene: EBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527005G>C , CM000685.2:g.48527005G>C GRCh38
NC_000023.10:g.48385393G>C , CM000685.1:g.48385393G>C GRCh37
NC_000023.9:g.48270337G>C NCBI36
NG_007452.1:g.10230G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.318G>C MANE Select ENSP00000417052.1:p.Lys106Asn
ENST00000651615.1:c.318G>C ENSP00000498524.1:p.Lys106Asn
ENST00000276096.10:n.276G>C
ENST00000414061.1:c.318G>C ENSP00000405832.1:p.Lys106Asn
ENST00000446158.5:c.318G>C ENSP00000390031.1:p.Lys106Asn
ENST00000466461.1:n.157G>C
ENST00000495186.5:c.318G>C ENSP00000417052.1:p.Lys106Asn
ENST00000498425.1:n.439G>C
NM_006579.2:c.318G>C NP_006570.1:p.Lys106Asn
NM_006579.3:c.318G>C MANE Select NP_006570.1:p.Lys106Asn