Canonical Allele Identifier: CA8926379
Gene: DSG1 HGNC NCBI
DSG1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402803
ClinVar RCV Id: RCV000454769 RCV001516238 RCV001662408 RCV001662407
dbSNP Id: rs3752095
ExAC: 18:28934681 A / T
gnomAD v2: 18-28934681-A-T
gnomAD v3: 18-31354718-A-T
gnomAD v4: 18-31354718-A-T
MyVariant Identifiers: chr18:g.28934681A>T (hg19) chr18:g.31354718A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31354718A>T , CM000680.2:g.31354718A>T GRCh38
NC_000018.9:g.28934681A>T , CM000680.1:g.28934681A>T GRCh37
NC_000018.8:g.27188679A>T NCBI36
NG_011803.2:g.41630A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257192.5:c.2522A>T (DSG1) MANE Select ENSP00000257192.4:p.Tyr841Phe
ENST00000257192.4:c.2522A>T (DSG1) ENSP00000257192.4:p.Tyr841Phe
ENST00000462981.2:c.599A>T (DSG1) ENSP00000462666.1:p.Tyr200Phe
NM_001942.3:c.2522A>T (DSG1) NP_001933.2:p.Tyr841Phe
NR_110788.1:n.157-265T>A (DSG1-AS1)
NM_001942.4:c.2522A>T (DSG1) MANE Select NP_001933.2:p.Tyr841Phe
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