Canonical Allele Identifier: CA310406558
Gene: DUXA HGNC NCBI

Linked Data

dbSNP Id: rs1056757157
gnomAD v2: 19-57678162-T-C
gnomAD v3: 19-57166794-T-C
gnomAD v4: 19-57166794-T-C
MyVariant Identifiers: chr19:g.57678162T>C (hg19) chr19:g.57166794T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166794T>C , CM000681.2:g.57166794T>C GRCh38
NC_000019.9:g.57678162T>C , CM000681.1:g.57678162T>C GRCh37
NC_000019.8:g.62369974T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+625A>G MANE Select ENSP00000452398.1:n.25+625A>G
ENST00000554048.2:c.25+625A>G ENSP00000452398.1:n.25+625A>G
NM_001012729.1:c.25+625A>G NP_001012747.1:n.25+625A>G
NM_001012729.2:c.25+625A>G MANE Select NP_001012747.1:n.25+625A>G
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