Canonical Allele Identifier: CA8925742
Gene: DSG1 HGNC NCBI

Linked Data

dbSNP Id: rs773601716
ExAC: 18:28906544 G / A
gnomAD v2: 18-28906544-G-A
gnomAD v4: 18-31326581-G-A
COSMIC: COSM389237
MyVariant Identifiers: chr18:g.28906544G>A (hg19) chr18:g.31326581G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31326581G>A , CM000680.2:g.31326581G>A GRCh38
NC_000018.9:g.28906544G>A , CM000680.1:g.28906544G>A GRCh37
NC_000018.8:g.27160542G>A NCBI36
NG_011803.2:g.13493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257192.5:c.49G>A MANE Select ENSP00000257192.4:p.Val17Met
ENST00000257192.4:c.49G>A ENSP00000257192.4:p.Val17Met
NM_001942.3:c.49G>A NP_001933.2:p.Val17Met
NM_001942.4:c.49G>A MANE Select NP_001933.2:p.Val17Met
Search 100 bp 5'
Search 100 bp 3'