Canonical Allele Identifier: CA459186122
Gene: DEFB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.6735323G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877801G>A , CM000670.2:g.6877801G>A GRCh38
NC_000008.10:g.6735323G>A , CM000670.1:g.6735323G>A GRCh37
NC_000008.9:g.6722733G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.57C>T MANE Select ENSP00000297439.3:p.Ala19=
ENST00000297439.3:c.57C>T ENSP00000297439.3:p.Ala19=
NM_005218.3:c.57C>T NP_005209.1:p.Ala19=
NM_005218.4:c.57C>T MANE Select NP_005209.1:p.Ala19=