Canonical Allele Identifier: CA145276
Gene: DSG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 88657
ClinVar RCV Id: RCV000074351 RCV000493440
dbSNP Id: rs397515639
gnomAD v4: 18-31326608-C-T
MyVariant Identifiers: chr18:g.28906571C>T (hg19) chr18:g.31326608C>T (hg38)
PubMed: PMID:11313759 PMID:15897387 PMID:19157795
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31326608C>T , CM000680.2:g.31326608C>T GRCh38
NC_000018.9:g.28906571C>T , CM000680.1:g.28906571C>T GRCh37
NC_000018.8:g.27160569C>T NCBI36
NG_011803.2:g.13520C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000257192.5:c.76C>T MANE Select ENSP00000257192.4:p.Arg26Ter
ENST00000257192.4:c.76C>T ENSP00000257192.4:p.Arg26Ter
NM_001942.3:c.76C>T NP_001933.2:p.Arg26Ter
NM_001942.4:c.76C>T MANE Select NP_001933.2:p.Arg26Ter
Search 100 bp 5'
Search 100 bp 3'