Canonical Allele Identifier: CA16043541
Gene: DSG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373942
ClinVar RCV Id: RCV000415242
dbSNP Id: rs1057518788

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31331787G>T , CM000680.2:g.31331787G>T GRCh38
NC_000018.9:g.28911750G>T , CM000680.1:g.28911750G>T GRCh37
NC_000018.8:g.27165748G>T NCBI36
NG_011803.2:g.18699G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000257192.5:c.604G>T MANE Select ENSP00000257192.4:p.Glu202Ter
ENST00000257192.4:c.604G>T ENSP00000257192.4:p.Glu202Ter
NM_001942.3:c.604G>T NP_001933.2:p.Glu202Ter
NM_001942.4:c.604G>T MANE Select NP_001933.2:p.Glu202Ter