Canonical Allele Identifier: CA049338

Gene: DSP

Linked Data

• ClinVar Variation Id: 1171043
• ClinVar RCV Id: RCV001523927 ; RCV004007240
• dbSNP Id: rs775399575
• ExAC: 6:7584730 C / A
• gnomAD v2: 6-7584730-C-A
• gnomAD v3: 6-7584497-C-A
• gnomAD v4: 6-7584497-C-A
• MyVariant Identifiers: chr6:g.7584730C>A (hg19) ; chr6:g.7584497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584497C>A , CM000668.2:g.7584497C>A	GRCh38
NC_000006.11:g.7584730C>A , CM000668.1:g.7584730C>A	GRCh37
NC_000006.10:g.7529729C>A	NCBI36
NG_008803.1:g.47861C>A , LRG_423:g.47861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5906C>A	ENSP00000518230.1:p.Thr1969Asn
ENST00000379802.8:c.7235C>A MANE Select	ENSP00000369129.3:p.Thr2412Asn
ENST00000379802.7:c.7235C>A	ENSP00000369129.3:p.Thr2412Asn
ENST00000418664.2:c.5438C>A	ENSP00000396591.2:p.Thr1813Asn
NM_001008844.1:c.5438C>A	NP_001008844.1:p.Thr1813Asn
NM_004415.2:c.7235C>A , LRG_423t1:c.7235C>A	NP_004406.2:p.Thr2412Asn
XM_011514323.1:c.5906C>A	XP_011512625.1:p.Thr1969Asn
NM_001008844.2:c.5438C>A	NP_001008844.1:p.Thr1813Asn
NM_001319034.1:c.5906C>A	NP_001305963.1:p.Thr1969Asn
NM_004415.3:c.7235C>A	NP_004406.2:p.Thr2412Asn
NM_004415.4:c.7235C>A MANE Select	NP_004406.2:p.Thr2412Asn
NM_001008844.3:c.5438C>A	NP_001008844.1:p.Thr1813Asn
NM_001319034.2:c.5906C>A	NP_001305963.1:p.Thr1969Asn