Canonical Allele Identifier: CA297736253
Gene: DSG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1285963
ClinVar RCV Id: RCV001708257
dbSNP Id: rs1941184
gnomAD v2: 18-29038123-A-C
gnomAD v3: 18-31458160-A-C
gnomAD v4: 18-31458160-A-C
MyVariant Identifiers: chr18:g.29038123A>C (hg19) chr18:g.31458160A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31458160A>C , CM000680.2:g.31458160A>C GRCh38
NC_000018.9:g.29038123A>C , CM000680.1:g.29038123A>C GRCh37
NC_000018.8:g.27292121A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257189.5:c.217-285A>C MANE Select ENSP00000257189.4:n.217-285A>C
ENST00000257189.4:c.217-285A>C ENSP00000257189.4:n.217-285A>C
NM_001944.2:c.217-285A>C NP_001935.2:n.217-285A>C
XM_011525850.1:c.217-285A>C XP_011524152.1:n.217-285A>C
XM_011525850.2:c.217-285A>C XP_011524152.1:n.217-285A>C
NM_001944.3:c.217-285A>C MANE Select NP_001935.2:n.217-285A>C
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