Canonical Allele Identifier: CA408247116
Gene: DEFB126 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.126160C>G (hg19) chr20:g.145519C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.145519C>G , CM000682.2:g.145519C>G GRCh38
NC_000020.10:g.126160C>G , CM000682.1:g.126160C>G GRCh37
NC_000020.9:g.74160C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382398.4:c.163C>G MANE Select ENSP00000371835.3:p.Gln55Glu
ENST00000382398.3:c.163C>G ENSP00000371835.3:p.Gln55Glu
ENST00000542572.1:n.127+31C>G
NM_030931.3:c.163C>G NP_112193.1:p.Gln55Glu
NM_030931.4:c.163C>G MANE Select NP_112193.1:p.Gln55Glu
Search 100 bp 5'
Search 100 bp 3'