Canonical Allele Identifier: CA854609328
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1363221503

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877882A>G , CM000670.2:g.6877882A>G GRCh38
NC_000008.10:g.6735404A>G , CM000670.1:g.6735404A>G GRCh37
NC_000008.9:g.6722814A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-25T>C MANE Select ENSP00000297439.3:n.-25T>C
ENST00000297439.3:c.-25T>C ENSP00000297439.3:n.-25T>C
NM_005218.3:c.-25T>C NP_005209.1:n.-25T>C
NM_005218.4:c.-25T>C MANE Select NP_005209.1:n.-25T>C