Canonical Allele Identifier: CA459186107
Gene: DEFB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.6735320T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877798T>G , CM000670.2:g.6877798T>G GRCh38
NC_000008.10:g.6735320T>G , CM000670.1:g.6735320T>G GRCh37
NC_000008.9:g.6722730T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.60A>C MANE Select ENSP00000297439.3:p.Ser20=
ENST00000297439.3:c.60A>C ENSP00000297439.3:p.Ser20=
NM_005218.3:c.60A>C NP_005209.1:p.Ser20=
NM_005218.4:c.60A>C MANE Select NP_005209.1:p.Ser20=