Canonical Allele Identifier: CA007120
Gene: DSP HGNC NCBI
ClinVar RCV:
RCV001851996
RCV003233075
ClinVar Variation:
29672
dbSNP:
387906618
gnomAD v2:
6:7584592 G / A
gnomAD v4:
chr6-7584359-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
MyVariant.info:
GRCh38 chr6:g.7584359G>A
GRCh37 chr6:g.7584592G>A
Revel Score:
ENST00000379802 (MANE Select) 0.803
ENST00000418664 0.803
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584359G>A , CM000668.2:g.7584359G>A GRCh38
NC_000006.11:g.7584592G>A , CM000668.1:g.7584592G>A GRCh37
NC_000006.10:g.7529591G>A NCBI36
NG_008803.1:g.47723G>A , LRG_423:g.47723G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.5768G>A ENSP00000518230.1:p.Arg1923His
ENST00000379802.8:c.7097G>A MANE Select ENSP00000369129.3:p.Arg2366His
ENST00000379802.7:c.7097G>A ENSP00000369129.3:p.Arg2366His
ENST00000418664.2:c.5300G>A ENSP00000396591.2:p.Arg1767His
NM_001008844.1:c.5300G>A NP_001008844.1:p.Arg1767His
NM_004415.2:c.7097G>A , LRG_423t1:c.7097G>A NP_004406.2:p.Arg2366His
XM_011514323.1:c.5768G>A XP_011512625.1:p.Arg1923His
NM_001008844.2:c.5300G>A NP_001008844.1:p.Arg1767His
NM_001319034.1:c.5768G>A NP_001305963.1:p.Arg1923His
NM_004415.3:c.7097G>A NP_004406.2:p.Arg2366His
NM_004415.4:c.7097G>A MANE Select NP_004406.2:p.Arg2366His
NM_001008844.3:c.5300G>A NP_001008844.1:p.Arg1767His
NM_001319034.2:c.5768G>A NP_001305963.1:p.Arg1923His
Search 100 bp 5'
Search 100 bp 3'