Canonical Allele Identifier: CA028300
Gene: DSP HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.7569235G>A
GRCh37 chr6:g.7569468G>A
Revel Score:
ENST00000379802 (MANE Select) 0.533
ENST00000418664 0.533
ENST00000397483 0.533
gnomAD v2:
6:7569468 G / A
gnomAD v3:
6:7569235 G / A
gnomAD v4:
chr6-7569235-G-A
Joint Max Group AF 0.00005937 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006246 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7569235G>A , CM000668.2:g.7569235G>A GRCh38
NC_000006.11:g.7569468G>A , CM000668.1:g.7569468G>A GRCh37
NC_000006.10:g.7514467G>A NCBI36
NG_008803.1:g.32599G>A , LRG_423:g.32599G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1469G>A ENSP00000518230.1:p.Arg490His
ENST00000379802.8:c.1469G>A MANE Select ENSP00000369129.3:p.Arg490His
ENST00000379802.7:c.1469G>A ENSP00000369129.3:p.Arg490His
ENST00000418664.2:c.1469G>A ENSP00000396591.2:p.Arg490His
NM_001008844.1:c.1469G>A NP_001008844.1:p.Arg490His
NM_004415.2:c.1469G>A , LRG_423t1:c.1469G>A NP_004406.2:p.Arg490His
XM_011514323.1:c.1469G>A XP_011512625.1:p.Arg490His
NM_001008844.2:c.1469G>A NP_001008844.1:p.Arg490His
NM_001319034.1:c.1469G>A NP_001305963.1:p.Arg490His
NM_004415.3:c.1469G>A NP_004406.2:p.Arg490His
NM_004415.4:c.1469G>A MANE Select NP_004406.2:p.Arg490His
NM_001008844.3:c.1469G>A NP_001008844.1:p.Arg490His
NM_001319034.2:c.1469G>A NP_001305963.1:p.Arg490His
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