Canonical Allele Identifier: CA2582292262
Gene: DUXA HGNC NCBI

Linked Data

dbSNP Id: rs879171536
gnomAD v3: 19-57166778-T-A
gnomAD v4: 19-57166778-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166778T>A , CM000681.2:g.57166778T>A GRCh38
NC_000019.9:g.57678146T>A , CM000681.1:g.57678146T>A GRCh37
NC_000019.8:g.62369958T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+641A>T MANE Select ENSP00000452398.1:n.25+641A>T
ENST00000554048.2:c.25+641A>T ENSP00000452398.1:n.25+641A>T
NM_001012729.1:c.25+641A>T NP_001012747.1:n.25+641A>T
NM_001012729.2:c.25+641A>T MANE Select NP_001012747.1:n.25+641A>T
Search 100 bp 5'
Search 100 bp 3'