Canonical Allele Identifier: CA2344305886
Gene: DUXA HGNC NCBI

Linked Data

dbSNP Id: rs2087057152
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166736G>C , CM000681.2:g.57166736G>C GRCh38
NC_000019.9:g.57678104G>C , CM000681.1:g.57678104G>C GRCh37
NC_000019.8:g.62369916G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+683C>G MANE Select ENSP00000452398.1:n.25+683C>G
ENST00000554048.2:c.25+683C>G ENSP00000452398.1:n.25+683C>G
NM_001012729.1:c.25+683C>G NP_001012747.1:n.25+683C>G
NM_001012729.2:c.25+683C>G MANE Select NP_001012747.1:n.25+683C>G
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