Canonical Allele Identifier: CA402127415
Gene: DSG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31326590G>A , CM000680.2:g.31326590G>A GRCh38
NC_000018.9:g.28906553G>A , CM000680.1:g.28906553G>A GRCh37
NC_000018.8:g.27160551G>A NCBI36
NG_011803.2:g.13502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257192.5:c.58G>A MANE Select ENSP00000257192.4:p.Glu20Lys
ENST00000257192.4:c.58G>A ENSP00000257192.4:p.Glu20Lys
NM_001942.3:c.58G>A NP_001933.2:p.Glu20Lys
NM_001942.4:c.58G>A MANE Select NP_001933.2:p.Glu20Lys