Canonical Allele Identifier: CA043954

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7581313C>T , CM000668.2:g.7581313C>T	GRCh38
NC_000006.11:g.7581546C>T , CM000668.1:g.7581546C>T	GRCh37
NC_000006.10:g.7526545C>T	NCBI36
NG_008803.1:g.44677C>T , LRG_423:g.44677C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.5123C>T MANE Select	NP_004406.2:p.Ser1708Phe
ENST00000379802.8:c.5123C>T MANE Select	ENSP00000369129.3:p.Ser1708Phe
NM_001008844.1:c.3583-1329C>T	NP_001008844.1:n.3583-1329C>T
NM_001008844.2:c.3583-1329C>T	NP_001008844.1:n.3583-1329C>T
NM_001008844.3:c.3583-1329C>T	NP_001008844.1:n.3583-1329C>T
NM_001319034.1:c.4050+1073C>T	NP_001305963.1:n.4050+1073C>T
NM_001319034.2:c.4050+1073C>T	NP_001305963.1:n.4050+1073C>T
NM_004415.2:c.5123C>T , LRG_423t1:c.5123C>T	NP_004406.2:p.Ser1708Phe
NM_004415.3:c.5123C>T	NP_004406.2:p.Ser1708Phe
ENST00000379802.7:c.5123C>T	ENSP00000369129.3:p.Ser1708Phe
ENST00000418664.2:c.3583-1329C>T	ENSP00000396591.2:n.3583-1329C>T
ENST00000710359.1:c.4050+1073C>T	ENSP00000518230.1:n.4050+1073C>T
XM_011514323.1:c.4050+1073C>T	XP_011512625.1:n.4050+1073C>T