Canonical Allele Identifier: CA006544
Gene: DSP HGNC NCBI
ClinVar RCV:
RCV000618287
RCV000623709
RCV000641842
RCV000777717
ClinVar Variation:
36022
COSMIC:
COSM1445907
dbSNP:
193922669
gnomAD v2:
6:7583050 G / A
gnomAD v3:
6:7582817 G / A
gnomAD v4:
chr6-7582817-G-A
Joint Max Group AF 0.00101466 (SAS)
Genomes Max Group AF 0.0004086 (SAS)
Exomes Max Group AF 0.00101745 (SAS)
MyVariant.info:
GRCh38 chr6:g.7582817G>A
GRCh37 chr6:g.7583050G>A
Revel Score:
ENST00000379802 (MANE Select) 0.176
ENST00000418664 0.176
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7582817G>A , CM000668.2:g.7582817G>A GRCh38
NC_000006.11:g.7583050G>A , CM000668.1:g.7583050G>A GRCh37
NC_000006.10:g.7528049G>A NCBI36
NG_008803.1:g.46181G>A , LRG_423:g.46181G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4226G>A ENSP00000518230.1:p.Arg1409His
ENST00000379802.8:c.5555G>A MANE Select ENSP00000369129.3:p.Arg1852His
ENST00000379802.7:c.5555G>A ENSP00000369129.3:p.Arg1852His
ENST00000418664.2:c.3758G>A ENSP00000396591.2:p.Arg1253His
NM_001008844.1:c.3758G>A NP_001008844.1:p.Arg1253His
NM_004415.2:c.5555G>A , LRG_423t1:c.5555G>A NP_004406.2:p.Arg1852His
XM_011514323.1:c.4226G>A XP_011512625.1:p.Arg1409His
NM_001008844.2:c.3758G>A NP_001008844.1:p.Arg1253His
NM_001319034.1:c.4226G>A NP_001305963.1:p.Arg1409His
NM_004415.3:c.5555G>A NP_004406.2:p.Arg1852His
NM_004415.4:c.5555G>A MANE Select NP_004406.2:p.Arg1852His
NM_001008844.3:c.3758G>A NP_001008844.1:p.Arg1253His
NM_001319034.2:c.4226G>A NP_001305963.1:p.Arg1409His
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