Canonical Allele Identifier: CA370230794
Gene: DEFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877799G>T , CM000670.2:g.6877799G>T GRCh38
NC_000008.10:g.6735321G>T , CM000670.1:g.6735321G>T GRCh37
NC_000008.9:g.6722731G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.59C>A MANE Select ENSP00000297439.3:p.Ser20Ter
ENST00000297439.3:c.59C>A ENSP00000297439.3:p.Ser20Ter
NM_005218.3:c.59C>A NP_005209.1:p.Ser20Ter
NM_005218.4:c.59C>A MANE Select NP_005209.1:p.Ser20Ter