Canonical Allele Identifier: CA044312

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7581411G>A , CM000668.2:g.7581411G>A	GRCh38
NC_000006.11:g.7581644G>A , CM000668.1:g.7581644G>A	GRCh37
NC_000006.10:g.7526643G>A	NCBI36
NG_008803.1:g.44775G>A , LRG_423:g.44775G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.5221G>A MANE Select	NP_004406.2:p.Ala1741Thr
ENST00000379802.8:c.5221G>A MANE Select	ENSP00000369129.3:p.Ala1741Thr
NM_001008844.1:c.3583-1231G>A	NP_001008844.1:n.3583-1231G>A
NM_001008844.2:c.3583-1231G>A	NP_001008844.1:n.3583-1231G>A
NM_001008844.3:c.3583-1231G>A	NP_001008844.1:n.3583-1231G>A
NM_001319034.1:c.4050+1171G>A	NP_001305963.1:n.4050+1171G>A
NM_001319034.2:c.4050+1171G>A	NP_001305963.1:n.4050+1171G>A
NM_004415.2:c.5221G>A , LRG_423t1:c.5221G>A	NP_004406.2:p.Ala1741Thr
NM_004415.3:c.5221G>A	NP_004406.2:p.Ala1741Thr
ENST00000379802.7:c.5221G>A	ENSP00000369129.3:p.Ala1741Thr
ENST00000418664.2:c.3583-1231G>A	ENSP00000396591.2:n.3583-1231G>A
ENST00000710359.1:c.4050+1171G>A	ENSP00000518230.1:n.4050+1171G>A
XM_011514323.1:c.4050+1171G>A	XP_011512625.1:n.4050+1171G>A