Canonical Allele Identifier: CA8925735

Gene: DSG1

Linked Data

• dbSNP Id: rs138634360
• ExAC: 18:28906496 A / C
• gnomAD v2: 18-28906496-A-C
• gnomAD v3: 18-31326533-A-C
• gnomAD v4: 18-31326533-A-C
• MyVariant Identifiers: chr18:g.28906496A>C (hg19) ; chr18:g.31326533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31326533A>C , CM000680.2:g.31326533A>C	GRCh38
NC_000018.9:g.28906496A>C , CM000680.1:g.28906496A>C	GRCh37
NC_000018.8:g.27160494A>C	NCBI36
NG_011803.2:g.13445A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257192.5:c.49-48A>C MANE Select	ENSP00000257192.4:n.49-48A>C
ENST00000257192.4:c.49-48A>C	ENSP00000257192.4:n.49-48A>C
NM_001942.3:c.49-48A>C	NP_001933.2:n.49-48A>C
NM_001942.4:c.49-48A>C MANE Select	NP_001933.2:n.49-48A>C