Canonical Allele Identifier: CA2344305863
Gene: DUXA HGNC NCBI

Linked Data

dbSNP Id: rs2087056964
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166700G>T , CM000681.2:g.57166700G>T GRCh38
NC_000019.9:g.57678068G>T , CM000681.1:g.57678068G>T GRCh37
NC_000019.8:g.62369880G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554048.3:c.25+719C>A MANE Select ENSP00000452398.1:n.25+719C>A
ENST00000554048.2:c.25+719C>A ENSP00000452398.1:n.25+719C>A
NM_001012729.1:c.25+719C>A NP_001012747.1:n.25+719C>A
NM_001012729.2:c.25+719C>A MANE Select NP_001012747.1:n.25+719C>A
Search 100 bp 5'
Search 100 bp 3'