Canonical Allele Identifier: CA2293803338
Community Standard Title: NM_177986.5(DSG4):c.1930A= (p.Ile644=)
Gene: DSG4 HGNC NCBI
DSG1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31406370A= , CM000680.2:g.31406370A= GRCh38
NC_000018.9:g.28986333A= , CM000680.1:g.28986333A= GRCh37
NC_000018.8:g.27240331A= NCBI36
NG_013040.1:g.34594A=

Transcript Alleles

HGVS Amino-acid Change
NM_177986.5:c.1930A= (DSG4) MANE Select NP_817123.1:p.Ile644=
ENST00000308128.9:c.1930A= (DSG4) MANE Select ENSP00000311859.4:p.Ile644=
NM_001134453.1:c.1930A= (DSG4) NP_001127925.1:p.Ile644=
NM_001134453.2:c.1930A= (DSG4) NP_001127925.1:p.Ile644=
NM_001134453.3:c.1930A= (DSG4) NP_001127925.1:p.Ile644=
NM_177986.3:c.1930A= (DSG4) NP_817123.1:p.Ile644=
NM_177986.4:c.1930A= (DSG4) NP_817123.1:p.Ile644=
NR_110788.1:n.156+20463T= (DSG1-AS1)
ENST00000308128.8:c.1930A= (DSG4) ENSP00000311859.4:p.Ile644=
ENST00000359747.4:c.1930A= (DSG4) ENSP00000352785.4:p.Ile644=
XM_011525827.1:c.532A= (DSG4) XP_011524129.1:p.Ile178=