Canonical Allele Identifier: CA004163
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 36021
ClinVar RCV Id: RCV000029680 RCV000038057 RCV000232682 RCV000245309 RCV000276388 RCV000325940 RCV000270902 RCV001528694 RCV003996123
dbSNP Id: rs28763968
ExAC: 6:7581196 G / A
gnomAD v2: 6-7581196-G-A
gnomAD v3: 6-7580963-G-A
gnomAD v4: 6-7580963-G-A
MyVariant Identifiers: chr6:g.7581196G>A (hg19) chr6:g.7580963G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580963G>A , CM000668.2:g.7580963G>A GRCh38
NC_000006.11:g.7581196G>A , CM000668.1:g.7581196G>A GRCh37
NC_000006.10:g.7526195G>A NCBI36
NG_008803.1:g.44327G>A , LRG_423:g.44327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4050+723G>A ENSP00000518230.1:n.4050+723G>A
ENST00000379802.8:c.4773G>A MANE Select ENSP00000369129.3:p.Arg1591=
ENST00000379802.7:c.4773G>A ENSP00000369129.3:p.Arg1591=
ENST00000418664.2:c.3582+1191G>A ENSP00000396591.2:n.3582+1191G>A
NM_001008844.1:c.3582+1191G>A NP_001008844.1:n.3582+1191G>A
NM_004415.2:c.4773G>A , LRG_423t1:c.4773G>A NP_004406.2:p.Arg1591=
XM_011514323.1:c.4050+723G>A XP_011512625.1:n.4050+723G>A
NM_001008844.2:c.3582+1191G>A NP_001008844.1:n.3582+1191G>A
NM_001319034.1:c.4050+723G>A NP_001305963.1:n.4050+723G>A
NM_004415.3:c.4773G>A NP_004406.2:p.Arg1591=
NM_004415.4:c.4773G>A MANE Select NP_004406.2:p.Arg1591=
NM_001008844.3:c.3582+1191G>A NP_001008844.1:n.3582+1191G>A
NM_001319034.2:c.4050+723G>A NP_001305963.1:n.4050+723G>A
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