Canonical Allele Identifier: CA362687316
Community Standard Title: NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly)
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7581049A>G , CM000668.2:g.7581049A>G GRCh38
NC_000006.11:g.7581282A>G , CM000668.1:g.7581282A>G GRCh37
NC_000006.10:g.7526281A>G NCBI36
NG_008803.1:g.44413A>G , LRG_423:g.44413A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004415.4:c.4859A>G MANE Select NP_004406.2:p.Glu1620Gly
ENST00000379802.8:c.4859A>G MANE Select ENSP00000369129.3:p.Glu1620Gly
NM_001008844.1:c.3582+1277A>G NP_001008844.1:n.3582+1277A>G
NM_001008844.2:c.3582+1277A>G NP_001008844.1:n.3582+1277A>G
NM_001008844.3:c.3582+1277A>G NP_001008844.1:n.3582+1277A>G
NM_001319034.1:c.4050+809A>G NP_001305963.1:n.4050+809A>G
NM_001319034.2:c.4050+809A>G NP_001305963.1:n.4050+809A>G
NM_004415.2:c.4859A>G , LRG_423t1:c.4859A>G NP_004406.2:p.Glu1620Gly
NM_004415.3:c.4859A>G NP_004406.2:p.Glu1620Gly
ENST00000379802.7:c.4859A>G ENSP00000369129.3:p.Glu1620Gly
ENST00000418664.2:c.3582+1277A>G ENSP00000396591.2:n.3582+1277A>G
ENST00000710359.1:c.4050+809A>G ENSP00000518230.1:n.4050+809A>G
XM_011514323.1:c.4050+809A>G XP_011512625.1:n.4050+809A>G