Canonical Allele Identifier: CA408247129
Gene: DEFB126 HGNC NCBI

Linked Data

dbSNP Id: rs1324323003
gnomAD v2: 20-126166-G-A
gnomAD v3: 20-145525-G-A
gnomAD v4: 20-145525-G-A
MyVariant Identifiers: chr20:g.126166G>A (hg19) chr20:g.145525G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.145525G>A , CM000682.2:g.145525G>A GRCh38
NC_000020.10:g.126166G>A , CM000682.1:g.126166G>A GRCh37
NC_000020.9:g.74166G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382398.4:c.169G>A MANE Select ENSP00000371835.3:p.Asp57Asn
ENST00000382398.3:c.169G>A ENSP00000371835.3:p.Asp57Asn
ENST00000542572.1:n.127+37G>A
NM_030931.3:c.169G>A NP_112193.1:p.Asp57Asn
NM_030931.4:c.169G>A MANE Select NP_112193.1:p.Asp57Asn
Search 100 bp 5'
Search 100 bp 3'