Canonical Allele Identifier: CA402127459

Gene: DSG1

Linked Data

• gnomAD v4: 18-31326607-C-A
• MyVariant Identifiers: chr18:g.28906570C>A (hg19) ; chr18:g.31326607C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31326607C>A , CM000680.2:g.31326607C>A	GRCh38
NC_000018.9:g.28906570C>A , CM000680.1:g.28906570C>A	GRCh37
NC_000018.8:g.27160568C>A	NCBI36
NG_011803.2:g.13519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257192.5:c.75C>A MANE Select	ENSP00000257192.4:p.Phe25Leu
ENST00000257192.4:c.75C>A	ENSP00000257192.4:p.Phe25Leu
NM_001942.3:c.75C>A	NP_001933.2:p.Phe25Leu
NM_001942.4:c.75C>A MANE Select	NP_001933.2:p.Phe25Leu