Canonical Allele Identifier: CA362693477
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1367282773
gnomAD v3: 6-7584913-A-G
gnomAD v4: 6-7584913-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584913A>G , CM000668.2:g.7584913A>G GRCh38
NC_000006.11:g.7585146A>G , CM000668.1:g.7585146A>G GRCh37
NC_000006.10:g.7530145A>G NCBI36
NG_008803.1:g.48277A>G , LRG_423:g.48277A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6322A>G ENSP00000518230.1:p.Ser2108Gly
ENST00000379802.8:c.7651A>G MANE Select ENSP00000369129.3:p.Ser2551Gly
ENST00000379802.7:c.7651A>G ENSP00000369129.3:p.Ser2551Gly
ENST00000418664.2:c.5854A>G ENSP00000396591.2:p.Ser1952Gly
NM_001008844.1:c.5854A>G NP_001008844.1:p.Ser1952Gly
NM_004415.2:c.7651A>G , LRG_423t1:c.7651A>G NP_004406.2:p.Ser2551Gly
XM_011514323.1:c.6322A>G XP_011512625.1:p.Ser2108Gly
NM_001008844.2:c.5854A>G NP_001008844.1:p.Ser1952Gly
NM_001319034.1:c.6322A>G NP_001305963.1:p.Ser2108Gly
NM_004415.3:c.7651A>G NP_004406.2:p.Ser2551Gly
NM_004415.4:c.7651A>G MANE Select NP_004406.2:p.Ser2551Gly
NM_001008844.3:c.5854A>G NP_001008844.1:p.Ser1952Gly
NM_001319034.2:c.6322A>G NP_001305963.1:p.Ser2108Gly