Canonical Allele Identifier: CA2344305904
Gene: DUXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166792T= , CM000681.2:g.57166792T= GRCh38
NC_000019.9:g.57678160T= , CM000681.1:g.57678160T= GRCh37
NC_000019.8:g.62369972T= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+627A= MANE Select ENSP00000452398.1:n.25+627A=
ENST00000554048.2:c.25+627A= ENSP00000452398.1:n.25+627A=
NM_001012729.1:c.25+627A= NP_001012747.1:n.25+627A=
NM_001012729.2:c.25+627A= MANE Select NP_001012747.1:n.25+627A=