Canonical Allele Identifier: CA408247128
Gene: DEFB126 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.126165G>T (hg19) chr20:g.145524G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.145524G>T , CM000682.2:g.145524G>T GRCh38
NC_000020.10:g.126165G>T , CM000682.1:g.126165G>T GRCh37
NC_000020.9:g.74165G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382398.4:c.168G>T MANE Select ENSP00000371835.3:p.Arg56Ser
ENST00000382398.3:c.168G>T ENSP00000371835.3:p.Arg56Ser
ENST00000542572.1:n.127+36G>T
NM_030931.3:c.168G>T NP_112193.1:p.Arg56Ser
NM_030931.4:c.168G>T MANE Select NP_112193.1:p.Arg56Ser
Search 100 bp 5'
Search 100 bp 3'