Canonical Allele Identifier: CA050554
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs28763970
gnomAD v2: 6-7585229-C-G
gnomAD v4: 6-7584996-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584996C>G , CM000668.2:g.7584996C>G GRCh38
NC_000006.11:g.7585229C>G , CM000668.1:g.7585229C>G GRCh37
NC_000006.10:g.7530228C>G NCBI36
NG_008803.1:g.48360C>G , LRG_423:g.48360C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6405C>G ENSP00000518230.1:p.Ser2135Arg
ENST00000379802.8:c.7734C>G MANE Select ENSP00000369129.3:p.Ser2578Arg
ENST00000379802.7:c.7734C>G ENSP00000369129.3:p.Ser2578Arg
ENST00000418664.2:c.5937C>G ENSP00000396591.2:p.Ser1979Arg
NM_001008844.1:c.5937C>G NP_001008844.1:p.Ser1979Arg
NM_004415.2:c.7734C>G , LRG_423t1:c.7734C>G NP_004406.2:p.Ser2578Arg
XM_011514323.1:c.6405C>G XP_011512625.1:p.Ser2135Arg
NM_001008844.2:c.5937C>G NP_001008844.1:p.Ser1979Arg
NM_001319034.1:c.6405C>G NP_001305963.1:p.Ser2135Arg
NM_004415.3:c.7734C>G NP_004406.2:p.Ser2578Arg
NM_004415.4:c.7734C>G MANE Select NP_004406.2:p.Ser2578Arg
NM_001008844.3:c.5937C>G NP_001008844.1:p.Ser1979Arg
NM_001319034.2:c.6405C>G NP_001305963.1:p.Ser2135Arg