Canonical Allele Identifier: CA362694997
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 923846
ClinVar RCV Id: RCV001184863
dbSNP Id: rs1759637183
gnomAD v4: 6-7585622-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585622A>T , CM000668.2:g.7585622A>T GRCh38
NC_000006.11:g.7585855A>T , CM000668.1:g.7585855A>T GRCh37
NC_000006.10:g.7530854A>T NCBI36
NG_008803.1:g.48986A>T , LRG_423:g.48986A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7031A>T ENSP00000518230.1:p.Asp2344Val
ENST00000379802.8:c.8360A>T MANE Select ENSP00000369129.3:p.Asp2787Val
ENST00000379802.7:c.8360A>T ENSP00000369129.3:p.Asp2787Val
ENST00000418664.2:c.6563A>T ENSP00000396591.2:p.Asp2188Val
NM_001008844.1:c.6563A>T NP_001008844.1:p.Asp2188Val
NM_004415.2:c.8360A>T , LRG_423t1:c.8360A>T NP_004406.2:p.Asp2787Val
XM_011514323.1:c.7031A>T XP_011512625.1:p.Asp2344Val
NM_001008844.2:c.6563A>T NP_001008844.1:p.Asp2188Val
NM_001319034.1:c.7031A>T NP_001305963.1:p.Asp2344Val
NM_004415.3:c.8360A>T NP_004406.2:p.Asp2787Val
NM_004415.4:c.8360A>T MANE Select NP_004406.2:p.Asp2787Val
NM_001008844.3:c.6563A>T NP_001008844.1:p.Asp2188Val
NM_001319034.2:c.7031A>T NP_001305963.1:p.Asp2344Val