Canonical Allele Identifier: CA362687072

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580940G>T , CM000668.2:g.7580940G>T	GRCh38
NC_000006.11:g.7581173G>T , CM000668.1:g.7581173G>T	GRCh37
NC_000006.10:g.7526172G>T	NCBI36
NG_008803.1:g.44304G>T , LRG_423:g.44304G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004415.4:c.4750G>T MANE Select	NP_004406.2:p.Ala1584Ser
ENST00000379802.8:c.4750G>T MANE Select	ENSP00000369129.3:p.Ala1584Ser
NM_001008844.1:c.3582+1168G>T	NP_001008844.1:n.3582+1168G>T
NM_001008844.2:c.3582+1168G>T	NP_001008844.1:n.3582+1168G>T
NM_001008844.3:c.3582+1168G>T	NP_001008844.1:n.3582+1168G>T
NM_001319034.1:c.4050+700G>T	NP_001305963.1:n.4050+700G>T
NM_001319034.2:c.4050+700G>T	NP_001305963.1:n.4050+700G>T
NM_004415.2:c.4750G>T , LRG_423t1:c.4750G>T	NP_004406.2:p.Ala1584Ser
NM_004415.3:c.4750G>T	NP_004406.2:p.Ala1584Ser
ENST00000379802.7:c.4750G>T	ENSP00000369129.3:p.Ala1584Ser
ENST00000418664.2:c.3582+1168G>T	ENSP00000396591.2:n.3582+1168G>T
ENST00000710359.1:c.4050+700G>T	ENSP00000518230.1:n.4050+700G>T
XM_011514323.1:c.4050+700G>T	XP_011512625.1:n.4050+700G>T