Canonical Allele Identifier: CA2541161598
Gene: DUXA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166862G>A , CM000681.2:g.57166862G>A GRCh38
NC_000019.9:g.57678230G>A , CM000681.1:g.57678230G>A GRCh37
NC_000019.8:g.62370042G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554048.3:c.25+557C>T MANE Select ENSP00000452398.1:n.25+557C>T
ENST00000554048.2:c.25+557C>T ENSP00000452398.1:n.25+557C>T
NM_001012729.1:c.25+557C>T NP_001012747.1:n.25+557C>T
NM_001012729.2:c.25+557C>T MANE Select NP_001012747.1:n.25+557C>T
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