Canonical Allele Identifier: CA004286
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 178028
ClinVar RCV Id: RCV000154711 RCV000262391 RCV000297493 RCV000301232 RCV000354640 RCV000586281 RCV000619090 RCV000771364 RCV000852993 RCV001085944
dbSNP Id: rs184154918
ExAC: 6:7580346 G / A
gnomAD v2: 6-7580346-G-A
gnomAD v3: 6-7580113-G-A
gnomAD v4: 6-7580113-G-A
MyVariant Identifiers: chr6:g.7580346G>A (hg19) chr6:g.7580113G>A (hg38)
PubMed: PMID:18632414 PMID:24125834
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580113G>A , CM000668.2:g.7580113G>A GRCh38
NC_000006.11:g.7580346G>A , CM000668.1:g.7580346G>A GRCh37
NC_000006.10:g.7525345G>A NCBI36
NG_008803.1:g.43477G>A , LRG_423:g.43477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3923G>A ENSP00000518230.1:p.Arg1308Gln
ENST00000379802.8:c.3923G>A MANE Select ENSP00000369129.3:p.Arg1308Gln
ENST00000379802.7:c.3923G>A ENSP00000369129.3:p.Arg1308Gln
ENST00000418664.2:c.3582+341G>A ENSP00000396591.2:n.3582+341G>A
NM_001008844.1:c.3582+341G>A NP_001008844.1:n.3582+341G>A
NM_004415.2:c.3923G>A , LRG_423t1:c.3923G>A NP_004406.2:p.Arg1308Gln
XM_011514323.1:c.3923G>A XP_011512625.1:p.Arg1308Gln
NM_001008844.2:c.3582+341G>A NP_001008844.1:n.3582+341G>A
NM_001319034.1:c.3923G>A NP_001305963.1:p.Arg1308Gln
NM_004415.3:c.3923G>A NP_004406.2:p.Arg1308Gln
NM_004415.4:c.3923G>A MANE Select NP_004406.2:p.Arg1308Gln
NM_001008844.3:c.3582+341G>A NP_001008844.1:n.3582+341G>A
NM_001319034.2:c.3923G>A NP_001305963.1:p.Arg1308Gln
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