Canonical Allele Identifier: CA370230819
Gene: DEFB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877805A>T , CM000670.2:g.6877805A>T GRCh38
NC_000008.10:g.6735327A>T , CM000670.1:g.6735327A>T GRCh37
NC_000008.9:g.6722737A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.53T>A MANE Select ENSP00000297439.3:p.Met18Lys
ENST00000297439.3:c.53T>A ENSP00000297439.3:p.Met18Lys
NM_005218.3:c.53T>A NP_005209.1:p.Met18Lys
NM_005218.4:c.53T>A MANE Select NP_005209.1:p.Met18Lys