Canonical Allele Identifier: CA778435723

Gene: DSG1

Linked Data

• dbSNP Id: rs1158204994
• gnomAD v3: 18-31326517-G-A
• gnomAD v4: 18-31326517-G-A
• MyVariant Identifiers: chr18:g.28906480G>A (hg19) ; chr18:g.31326517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31326517G>A , CM000680.2:g.31326517G>A	GRCh38
NC_000018.9:g.28906480G>A , CM000680.1:g.28906480G>A	GRCh37
NC_000018.8:g.27160478G>A	NCBI36
NG_011803.2:g.13429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257192.5:c.49-64G>A MANE Select	ENSP00000257192.4:n.49-64G>A
ENST00000257192.4:c.49-64G>A	ENSP00000257192.4:n.49-64G>A
NM_001942.3:c.49-64G>A	NP_001933.2:n.49-64G>A
NM_001942.4:c.49-64G>A MANE Select	NP_001933.2:n.49-64G>A