Canonical Allele Identifier: CA8927121

Gene: DSG4 DSG1-AS1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_177986.5:c.1930A>C (DSG4) MANE Select	NP_817123.1:p.Ile644Leu
ENST00000308128.9:c.1930A>C (DSG4) MANE Select	ENSP00000311859.4:p.Ile644Leu
NM_001134453.1:c.1930A>C (DSG4)	NP_001127925.1:p.Ile644Leu
NM_001134453.2:c.1930A>C (DSG4)	NP_001127925.1:p.Ile644Leu
NM_001134453.3:c.1930A>C (DSG4)	NP_001127925.1:p.Ile644Leu
NM_177986.3:c.1930A>C (DSG4)	NP_817123.1:p.Ile644Leu
NM_177986.4:c.1930A>C (DSG4)	NP_817123.1:p.Ile644Leu
NR_110788.1:n.156+20463T>G (DSG1-AS1)
ENST00000308128.8:c.1930A>C (DSG4)	ENSP00000311859.4:p.Ile644Leu
ENST00000359747.4:c.1930A>C (DSG4)	ENSP00000352785.4:p.Ile644Leu
XM_011525827.1:c.532A>C (DSG4)	XP_011524129.1:p.Ile178Leu