Canonical Allele Identifier: CA310406531
Gene: DUXA HGNC NCBI

Linked Data

dbSNP Id: rs939583883
gnomAD v3: 19-57166756-G-A
gnomAD v4: 19-57166756-G-A
MyVariant Identifiers: chr19:g.57678124G>A (hg19) chr19:g.57166756G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166756G>A , CM000681.2:g.57166756G>A GRCh38
NC_000019.9:g.57678124G>A , CM000681.1:g.57678124G>A GRCh37
NC_000019.8:g.62369936G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+663C>T MANE Select ENSP00000452398.1:n.25+663C>T
ENST00000554048.2:c.25+663C>T ENSP00000452398.1:n.25+663C>T
NM_001012729.1:c.25+663C>T NP_001012747.1:n.25+663C>T
NM_001012729.2:c.25+663C>T MANE Select NP_001012747.1:n.25+663C>T
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