Canonical Allele Identifier: CA2344305897
Gene: DUXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166753T= , CM000681.2:g.57166753T= GRCh38
NC_000019.9:g.57678121T= , CM000681.1:g.57678121T= GRCh37
NC_000019.8:g.62369933T= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+666A= MANE Select ENSP00000452398.1:n.25+666A=
ENST00000554048.2:c.25+666A= ENSP00000452398.1:n.25+666A=
NM_001012729.1:c.25+666A= NP_001012747.1:n.25+666A=
NM_001012729.2:c.25+666A= MANE Select NP_001012747.1:n.25+666A=