Canonical Allele Identifier: CA1761183413
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870602A= , CM000670.2:g.6870602A= GRCh38
NC_000008.10:g.6728124A= , CM000670.1:g.6728124A= GRCh37
NC_000008.9:g.6715534A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.*79T= MANE Select ENSP00000297439.3:n.*79T=
ENST00000297439.3:c.*79T= ENSP00000297439.3:n.*79T=
NM_005218.3:c.*79T= NP_005209.1:n.*79T=
NM_005218.4:c.*79T= MANE Select NP_005209.1:n.*79T=