Canonical Allele Identifier: CA2344305857
Gene: DUXA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166691G= , CM000681.2:g.57166691G= GRCh38
NC_000019.9:g.57678059G= , CM000681.1:g.57678059G= GRCh37
NC_000019.8:g.62369871G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554048.3:c.25+728C= MANE Select ENSP00000452398.1:n.25+728C=
ENST00000554048.2:c.25+728C= ENSP00000452398.1:n.25+728C=
NM_001012729.1:c.25+728C= NP_001012747.1:n.25+728C=
NM_001012729.2:c.25+728C= MANE Select NP_001012747.1:n.25+728C=
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