Canonical Allele Identifier: CA310406482
Gene: DUXA HGNC NCBI

Linked Data

dbSNP Id: rs898498074
MyVariant Identifiers: chr19:g.57678050A>T (hg19) chr19:g.57166682A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166682A>T , CM000681.2:g.57166682A>T GRCh38
NC_000019.9:g.57678050A>T , CM000681.1:g.57678050A>T GRCh37
NC_000019.8:g.62369862A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554048.3:c.25+737T>A MANE Select ENSP00000452398.1:n.25+737T>A
ENST00000554048.2:c.25+737T>A ENSP00000452398.1:n.25+737T>A
NM_001012729.1:c.25+737T>A NP_001012747.1:n.25+737T>A
NM_001012729.2:c.25+737T>A MANE Select NP_001012747.1:n.25+737T>A
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