Canonical Allele Identifier: CA362692339
Gene: DSP HGNC NCBI

Linked Data

gnomAD v4: 6-7584409-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584409A>G , CM000668.2:g.7584409A>G GRCh38
NC_000006.11:g.7584642A>G , CM000668.1:g.7584642A>G GRCh37
NC_000006.10:g.7529641A>G NCBI36
NG_008803.1:g.47773A>G , LRG_423:g.47773A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.5818A>G ENSP00000518230.1:p.Ser1940Gly
ENST00000379802.8:c.7147A>G MANE Select ENSP00000369129.3:p.Ser2383Gly
ENST00000379802.7:c.7147A>G ENSP00000369129.3:p.Ser2383Gly
ENST00000418664.2:c.5350A>G ENSP00000396591.2:p.Ser1784Gly
NM_001008844.1:c.5350A>G NP_001008844.1:p.Ser1784Gly
NM_004415.2:c.7147A>G , LRG_423t1:c.7147A>G NP_004406.2:p.Ser2383Gly
XM_011514323.1:c.5818A>G XP_011512625.1:p.Ser1940Gly
NM_001008844.2:c.5350A>G NP_001008844.1:p.Ser1784Gly
NM_001319034.1:c.5818A>G NP_001305963.1:p.Ser1940Gly
NM_004415.3:c.7147A>G NP_004406.2:p.Ser2383Gly
NM_004415.4:c.7147A>G MANE Select NP_004406.2:p.Ser2383Gly
NM_001008844.3:c.5350A>G NP_001008844.1:p.Ser1784Gly
NM_001319034.2:c.5818A>G NP_001305963.1:p.Ser1940Gly