Canonical Allele Identifier: CA2344305869
Gene: DUXA HGNC NCBI

Linked Data

dbSNP Id: rs2087057019
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166714C>G , CM000681.2:g.57166714C>G GRCh38
NC_000019.9:g.57678082C>G , CM000681.1:g.57678082C>G GRCh37
NC_000019.8:g.62369894C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554048.3:c.25+705G>C MANE Select ENSP00000452398.1:n.25+705G>C
ENST00000554048.2:c.25+705G>C ENSP00000452398.1:n.25+705G>C
NM_001012729.1:c.25+705G>C NP_001012747.1:n.25+705G>C
NM_001012729.2:c.25+705G>C MANE Select NP_001012747.1:n.25+705G>C
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