Canonical Allele Identifier: CA629145856
Gene: DSG1 HGNC NCBI

Linked Data

dbSNP Id: rs1297607599
gnomAD v2: 18-28906511-A-C
gnomAD v3: 18-31326548-A-C
gnomAD v4: 18-31326548-A-C
MyVariant Identifiers: chr18:g.28906511A>C (hg19) chr18:g.31326548A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31326548A>C , CM000680.2:g.31326548A>C GRCh38
NC_000018.9:g.28906511A>C , CM000680.1:g.28906511A>C GRCh37
NC_000018.8:g.27160509A>C NCBI36
NG_011803.2:g.13460A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257192.5:c.49-33A>C MANE Select ENSP00000257192.4:n.49-33A>C
ENST00000257192.4:c.49-33A>C ENSP00000257192.4:n.49-33A>C
NM_001942.3:c.49-33A>C NP_001933.2:n.49-33A>C
NM_001942.4:c.49-33A>C MANE Select NP_001933.2:n.49-33A>C
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