Canonical Allele Identifier: CA039502
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 691716
ClinVar RCV Id: RCV000852573 RCV001165137 RCV001052285 RCV001165136 RCV001165135 RCV002352496 RCV002478946 RCV004002904
dbSNP Id: rs775594375
ExAC: 6:7580327 C / T
gnomAD v2: 6-7580327-C-T
gnomAD v3: 6-7580094-C-T
gnomAD v4: 6-7580094-C-T
MyVariant Identifiers: chr6:g.7580327C>T (hg19) chr6:g.7580094C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580094C>T , CM000668.2:g.7580094C>T GRCh38
NC_000006.11:g.7580327C>T , CM000668.1:g.7580327C>T GRCh37
NC_000006.10:g.7525326C>T NCBI36
NG_008803.1:g.43458C>T , LRG_423:g.43458C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3904C>T ENSP00000518230.1:p.Arg1302Cys
ENST00000379802.8:c.3904C>T MANE Select ENSP00000369129.3:p.Arg1302Cys
ENST00000379802.7:c.3904C>T ENSP00000369129.3:p.Arg1302Cys
ENST00000418664.2:c.3582+322C>T ENSP00000396591.2:n.3582+322C>T
NM_001008844.1:c.3582+322C>T NP_001008844.1:n.3582+322C>T
NM_004415.2:c.3904C>T , LRG_423t1:c.3904C>T NP_004406.2:p.Arg1302Cys
XM_011514323.1:c.3904C>T XP_011512625.1:p.Arg1302Cys
NM_001008844.2:c.3582+322C>T NP_001008844.1:n.3582+322C>T
NM_001319034.1:c.3904C>T NP_001305963.1:p.Arg1302Cys
NM_004415.3:c.3904C>T NP_004406.2:p.Arg1302Cys
NM_004415.4:c.3904C>T MANE Select NP_004406.2:p.Arg1302Cys
NM_001008844.3:c.3582+322C>T NP_001008844.1:n.3582+322C>T
NM_001319034.2:c.3904C>T NP_001305963.1:p.Arg1302Cys
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