Canonical Allele Identifier: CA050668

Gene: DSP

Linked Data

• ClinVar Variation Id: 908456
• ClinVar RCV Id: RCV001158960 ; RCV001158962 ; RCV001158961 ; RCV002411655 ; RCV002558402 ; RCV004000259
• dbSNP Id: rs755928079
• ExAC: 6:7585262 A / G
• gnomAD v2: 6-7585262-A-G
• gnomAD v3: 6-7585029-A-G
• gnomAD v4: 6-7585029-A-G
• MyVariant Identifiers: chr6:g.7585262A>G (hg19) ; chr6:g.7585029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585029A>G , CM000668.2:g.7585029A>G	GRCh38
NC_000006.11:g.7585262A>G , CM000668.1:g.7585262A>G	GRCh37
NC_000006.10:g.7530261A>G	NCBI36
NG_008803.1:g.48393A>G , LRG_423:g.48393A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6438A>G	ENSP00000518230.1:p.Ser2146=
ENST00000379802.8:c.7767A>G MANE Select	ENSP00000369129.3:p.Ser2589=
ENST00000379802.7:c.7767A>G	ENSP00000369129.3:p.Ser2589=
ENST00000418664.2:c.5970A>G	ENSP00000396591.2:p.Ser1990=
NM_001008844.1:c.5970A>G	NP_001008844.1:p.Ser1990=
NM_004415.2:c.7767A>G , LRG_423t1:c.7767A>G	NP_004406.2:p.Ser2589=
XM_011514323.1:c.6438A>G	XP_011512625.1:p.Ser2146=
NM_001008844.2:c.5970A>G	NP_001008844.1:p.Ser1990=
NM_001319034.1:c.6438A>G	NP_001305963.1:p.Ser2146=
NM_004415.3:c.7767A>G	NP_004406.2:p.Ser2589=
NM_004415.4:c.7767A>G MANE Select	NP_004406.2:p.Ser2589=
NM_001008844.3:c.5970A>G	NP_001008844.1:p.Ser1990=
NM_001319034.2:c.6438A>G	NP_001305963.1:p.Ser2146=