Canonical Allele Identifier: CA1761183405
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870594T= , CM000670.2:g.6870594T= GRCh38
NC_000008.10:g.6728116T= , CM000670.1:g.6728116T= GRCh37
NC_000008.9:g.6715526T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005218.4:c.*87A= MANE Select NP_005209.1:n.*87A=
ENST00000297439.4:c.*87A= MANE Select ENSP00000297439.3:n.*87A=
NM_005218.3:c.*87A= NP_005209.1:n.*87A=
ENST00000297439.3:c.*87A= ENSP00000297439.3:n.*87A=