Canonical Allele Identifier: CA297689105
Gene: DSG1 HGNC NCBI

Linked Data

dbSNP Id: rs986665000
gnomAD v4: 18-31326572-T-A
MyVariant Identifiers: chr18:g.28906535T>A (hg19) chr18:g.31326572T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31326572T>A , CM000680.2:g.31326572T>A GRCh38
NC_000018.9:g.28906535T>A , CM000680.1:g.28906535T>A GRCh37
NC_000018.8:g.27160533T>A NCBI36
NG_011803.2:g.13484T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257192.5:c.49-9T>A MANE Select ENSP00000257192.4:n.49-9T>A
ENST00000257192.4:c.49-9T>A ENSP00000257192.4:n.49-9T>A
NM_001942.3:c.49-9T>A NP_001933.2:n.49-9T>A
NM_001942.4:c.49-9T>A MANE Select NP_001933.2:n.49-9T>A
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