Canonical Allele Identifier: CA2344305883
Gene: DUXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166729C= , CM000681.2:g.57166729C= GRCh38
NC_000019.9:g.57678097C= , CM000681.1:g.57678097C= GRCh37
NC_000019.8:g.62369909C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+690G= MANE Select ENSP00000452398.1:n.25+690G=
ENST00000554048.2:c.25+690G= ENSP00000452398.1:n.25+690G=
NM_001012729.1:c.25+690G= NP_001012747.1:n.25+690G=
NM_001012729.2:c.25+690G= MANE Select NP_001012747.1:n.25+690G=