Canonical Allele Identifier: CA043654

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7581209A>T , CM000668.2:g.7581209A>T	GRCh38
NC_000006.11:g.7581442A>T , CM000668.1:g.7581442A>T	GRCh37
NC_000006.10:g.7526441A>T	NCBI36
NG_008803.1:g.44573A>T , LRG_423:g.44573A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.5019A>T MANE Select	NP_004406.2:p.Glu1673Asp
ENST00000379802.8:c.5019A>T MANE Select	ENSP00000369129.3:p.Glu1673Asp
NM_001008844.1:c.3583-1433A>T	NP_001008844.1:n.3583-1433A>T
NM_001008844.2:c.3583-1433A>T	NP_001008844.1:n.3583-1433A>T
NM_001008844.3:c.3583-1433A>T	NP_001008844.1:n.3583-1433A>T
NM_001319034.1:c.4050+969A>T	NP_001305963.1:n.4050+969A>T
NM_001319034.2:c.4050+969A>T	NP_001305963.1:n.4050+969A>T
NM_004415.2:c.5019A>T , LRG_423t1:c.5019A>T	NP_004406.2:p.Glu1673Asp
NM_004415.3:c.5019A>T	NP_004406.2:p.Glu1673Asp
ENST00000379802.7:c.5019A>T	ENSP00000369129.3:p.Glu1673Asp
ENST00000418664.2:c.3583-1433A>T	ENSP00000396591.2:n.3583-1433A>T
ENST00000710359.1:c.4050+969A>T	ENSP00000518230.1:n.4050+969A>T
XM_011514323.1:c.4050+969A>T	XP_011512625.1:n.4050+969A>T