Canonical Allele Identifier: CA1761183419
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1584996381
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6870609T>G , CM000670.2:g.6870609T>G GRCh38
NC_000008.10:g.6728131T>G , CM000670.1:g.6728131T>G GRCh37
NC_000008.9:g.6715541T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.*72A>C MANE Select ENSP00000297439.3:n.*72A>C
ENST00000297439.3:c.*72A>C ENSP00000297439.3:n.*72A>C
NM_005218.3:c.*72A>C NP_005209.1:n.*72A>C
NM_005218.4:c.*72A>C MANE Select NP_005209.1:n.*72A>C
Search 100 bp 5'
Search 100 bp 3'