Canonical Allele Identifier: CA8123421

Gene: DDX28 DUS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68021788T>C , CM000678.2:g.68021788T>C	GRCh38
NC_000016.9:g.68055691T>C , CM000678.1:g.68055691T>C	GRCh37
NC_000016.8:g.66613192T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018380.4:c.1415A>G (DDX28) MANE Select	NP_060850.2:p.Tyr472Cys
ENST00000332395.7:c.1415A>G (DDX28) MANE Select	ENSP00000332340.6:p.Tyr472Cys
NM_018380.3:c.1415A>G (DDX28)	NP_060850.2:p.Tyr472Cys
ENST00000332395.6:c.1415A>G (DDX28)	ENSP00000332340.5:p.Tyr472Cys
ENST00000566306.5:c.-98-3627T>C (DUS2)	ENSP00000454252.1:n.-98-3627T>C
ENST00000570709.6:c.-18-16218T>C (DUS2)	ENSP00000461244.3:n.-18-16218T>C
ENST00000571081.6:c.-98-3627T>C (DUS2)	ENSP00000458906.3:n.-98-3627T>C
ENST00000575677.5:c.-18-16218T>C (DUS2)	ENSP00000461659.1:n.-18-16218T>C
ENST00000576994.5:c.-19+5538T>C (DUS2)	ENSP00000458152.1:n.-19+5538T>C