Canonical Allele Identifier: CA004213

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7581133A>G , CM000668.2:g.7581133A>G	GRCh38
NC_000006.11:g.7581366A>G , CM000668.1:g.7581366A>G	GRCh37
NC_000006.10:g.7526365A>G	NCBI36
NG_008803.1:g.44497A>G , LRG_423:g.44497A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.4943A>G MANE Select	NP_004406.2:p.Gln1648Arg
ENST00000379802.8:c.4943A>G MANE Select	ENSP00000369129.3:p.Gln1648Arg
NM_001008844.1:c.3582+1361A>G	NP_001008844.1:n.3582+1361A>G
NM_001008844.2:c.3582+1361A>G	NP_001008844.1:n.3582+1361A>G
NM_001008844.3:c.3582+1361A>G	NP_001008844.1:n.3582+1361A>G
NM_001319034.1:c.4050+893A>G	NP_001305963.1:n.4050+893A>G
NM_001319034.2:c.4050+893A>G	NP_001305963.1:n.4050+893A>G
NM_004415.2:c.4943A>G , LRG_423t1:c.4943A>G	NP_004406.2:p.Gln1648Arg
NM_004415.3:c.4943A>G	NP_004406.2:p.Gln1648Arg
ENST00000379802.7:c.4943A>G	ENSP00000369129.3:p.Gln1648Arg
ENST00000418664.2:c.3582+1361A>G	ENSP00000396591.2:n.3582+1361A>G
ENST00000710359.1:c.4050+893A>G	ENSP00000518230.1:n.4050+893A>G
XM_011514323.1:c.4050+893A>G	XP_011512625.1:n.4050+893A>G