Canonical Allele Identifier: CA310406475

Gene: DUXA

Linked Data

• dbSNP Id: rs1004269805
• gnomAD v3: 19-57166678-G-C
• gnomAD v4: 19-57166678-G-C
• MyVariant Identifiers: chr19:g.57678046G>C (hg19) ; chr19:g.57166678G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.57166678G>C , CM000681.2:g.57166678G>C	GRCh38
NC_000019.9:g.57678046G>C , CM000681.1:g.57678046G>C	GRCh37
NC_000019.8:g.62369858G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554048.3:c.25+741C>G MANE Select	ENSP00000452398.1:n.25+741C>G
ENST00000554048.2:c.25+741C>G	ENSP00000452398.1:n.25+741C>G
NM_001012729.1:c.25+741C>G	NP_001012747.1:n.25+741C>G
NM_001012729.2:c.25+741C>G MANE Select	NP_001012747.1:n.25+741C>G