Canonical Allele Identifier: CA2344305890
Gene: DUXA HGNC NCBI

Linked Data

dbSNP Id: rs1163653804
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166743C>G , CM000681.2:g.57166743C>G GRCh38
NC_000019.9:g.57678111C>G , CM000681.1:g.57678111C>G GRCh37
NC_000019.8:g.62369923C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+676G>C MANE Select ENSP00000452398.1:n.25+676G>C
ENST00000554048.2:c.25+676G>C ENSP00000452398.1:n.25+676G>C
NM_001012729.1:c.25+676G>C NP_001012747.1:n.25+676G>C
NM_001012729.2:c.25+676G>C MANE Select NP_001012747.1:n.25+676G>C
Search 100 bp 5'
Search 100 bp 3'