Canonical Allele Identifier: CA362674039
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 2098587
ClinVar RCV Id: RCV003008496

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7565382T>A , CM000668.2:g.7565382T>A GRCh38
NC_000006.11:g.7565615T>A , CM000668.1:g.7565615T>A GRCh37
NC_000006.10:g.7510614T>A NCBI36
NG_008803.1:g.28746T>A , LRG_423:g.28746T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.801T>A ENSP00000518230.1:p.Asp267Glu
ENST00000682228.1:n.125T>A
ENST00000379802.8:c.801T>A MANE Select ENSP00000369129.3:p.Asp267Glu
ENST00000379802.7:c.801T>A ENSP00000369129.3:p.Asp267Glu
ENST00000418664.2:c.801T>A ENSP00000396591.2:p.Asp267Glu
ENST00000506617.1:n.319T>A
NM_001008844.1:c.801T>A NP_001008844.1:p.Asp267Glu
NM_004415.2:c.801T>A , LRG_423t1:c.801T>A NP_004406.2:p.Asp267Glu
XM_011514323.1:c.801T>A XP_011512625.1:p.Asp267Glu
NM_001008844.2:c.801T>A NP_001008844.1:p.Asp267Glu
NM_001319034.1:c.801T>A NP_001305963.1:p.Asp267Glu
NM_004415.3:c.801T>A NP_004406.2:p.Asp267Glu
NM_004415.4:c.801T>A MANE Select NP_004406.2:p.Asp267Glu
NM_001008844.3:c.801T>A NP_001008844.1:p.Asp267Glu
NM_001319034.2:c.801T>A NP_001305963.1:p.Asp267Glu