Canonical Allele Identifier: CA2344305901
Gene: DUXA HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+641A= MANE Select ENSP00000452398.1:n.25+641A=
ENST00000554048.2:c.25+641A= ENSP00000452398.1:n.25+641A=
NM_001012729.1:c.25+641A= NP_001012747.1:n.25+641A=
NM_001012729.2:c.25+641A= MANE Select NP_001012747.1:n.25+641A=