Canonical Allele Identifier: CA007281
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 191643
ClinVar RCV Id: RCV000171921 RCV001158965 RCV001158964 RCV001158963 RCV001184995 RCV001371106 RCV003995669
dbSNP Id: rs199597935
ExAC: 6:7585312 G / A
gnomAD v2: 6-7585312-G-A
gnomAD v3: 6-7585079-G-A
gnomAD v4: 6-7585079-G-A
MyVariant Identifiers: chr6:g.7585312G>A (hg19) chr6:g.7585079G>A (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585079G>A , CM000668.2:g.7585079G>A GRCh38
NC_000006.11:g.7585312G>A , CM000668.1:g.7585312G>A GRCh37
NC_000006.10:g.7530311G>A NCBI36
NG_008803.1:g.48443G>A , LRG_423:g.48443G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6488G>A ENSP00000518230.1:p.Ser2163Asn
ENST00000379802.8:c.7817G>A MANE Select ENSP00000369129.3:p.Ser2606Asn
ENST00000379802.7:c.7817G>A ENSP00000369129.3:p.Ser2606Asn
ENST00000418664.2:c.6020G>A ENSP00000396591.2:p.Ser2007Asn
NM_001008844.1:c.6020G>A NP_001008844.1:p.Ser2007Asn
NM_004415.2:c.7817G>A , LRG_423t1:c.7817G>A NP_004406.2:p.Ser2606Asn
XM_011514323.1:c.6488G>A XP_011512625.1:p.Ser2163Asn
NM_001008844.2:c.6020G>A NP_001008844.1:p.Ser2007Asn
NM_001319034.1:c.6488G>A NP_001305963.1:p.Ser2163Asn
NM_004415.3:c.7817G>A NP_004406.2:p.Ser2606Asn
NM_004415.4:c.7817G>A MANE Select NP_004406.2:p.Ser2606Asn
NM_001008844.3:c.6020G>A NP_001008844.1:p.Ser2007Asn
NM_001319034.2:c.6488G>A NP_001305963.1:p.Ser2163Asn
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