Canonical Allele Identifier: CA8927045

Gene: DSG4 DSG1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31403602T>C , CM000680.2:g.31403602T>C	GRCh38
NC_000018.9:g.28983565T>C , CM000680.1:g.28983565T>C	GRCh37
NC_000018.8:g.27237563T>C	NCBI36
NG_013040.1:g.31826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308128.9:c.1604T>C (DSG4) MANE Select	ENSP00000311859.4:p.Ile535Thr
ENST00000308128.8:c.1604T>C (DSG4)	ENSP00000311859.4:p.Ile535Thr
ENST00000359747.4:c.1604T>C (DSG4)	ENSP00000352785.4:p.Ile535Thr
NM_001134453.1:c.1604T>C (DSG4)	NP_001127925.1:p.Ile535Thr
NM_177986.3:c.1604T>C (DSG4)	NP_817123.1:p.Ile535Thr
NR_110788.1:n.156+23231A>G (DSG1-AS1)
XM_011525827.1:c.206T>C (DSG4)	XP_011524129.1:p.Ile69Thr
NM_001134453.2:c.1604T>C (DSG4)	NP_001127925.1:p.Ile535Thr
NM_177986.4:c.1604T>C (DSG4)	NP_817123.1:p.Ile535Thr
NM_177986.5:c.1604T>C (DSG4) MANE Select	NP_817123.1:p.Ile535Thr
NM_001134453.3:c.1604T>C (DSG4)	NP_001127925.1:p.Ile535Thr