Canonical Allele Identifier: CA509571864
Gene: DEFB126 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.126163A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.145522A>C , CM000682.2:g.145522A>C GRCh38
NC_000020.10:g.126163A>C , CM000682.1:g.126163A>C GRCh37
NC_000020.9:g.74163A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382398.4:c.166A>C MANE Select ENSP00000371835.3:p.Arg56=
ENST00000382398.3:c.166A>C ENSP00000371835.3:p.Arg56=
ENST00000542572.1:n.127+34A>C
NM_030931.3:c.166A>C NP_112193.1:p.Arg56=
NM_030931.4:c.166A>C MANE Select NP_112193.1:p.Arg56=
Search 100 bp 5'
Search 100 bp 3'