Canonical Allele Identifier: CA579664809
Gene: DEFB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877893T>G , CM000670.2:g.6877893T>G GRCh38
NC_000008.10:g.6735415T>G , CM000670.1:g.6735415T>G GRCh37
NC_000008.9:g.6722825T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297439.4:c.-36A>C MANE Select ENSP00000297439.3:n.-36A>C
ENST00000297439.3:c.-36A>C ENSP00000297439.3:n.-36A>C
NM_005218.3:c.-36A>C NP_005209.1:n.-36A>C
NM_005218.4:c.-36A>C MANE Select NP_005209.1:n.-36A>C