Canonical Allele Identifier: CA007889
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 44982
dbSNP Id: rs200476515

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7566380C>T , CM000668.2:g.7566380C>T GRCh38
NC_000006.11:g.7566613C>T , CM000668.1:g.7566613C>T GRCh37
NC_000006.10:g.7511612C>T NCBI36
NG_008803.1:g.29744C>T , LRG_423:g.29744C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379802.8:c.943C>T MANE Select ENSP00000369129.3:p.Arg315Cys
ENST00000379802.7:c.943C>T ENSP00000369129.3:p.Arg315Cys
ENST00000418664.2:c.943C>T ENSP00000396591.2:p.Arg315Cys
NM_001008844.1:c.943C>T NP_001008844.1:p.Arg315Cys
NM_004415.2:c.943C>T , LRG_423t1:c.943C>T NP_004406.2:p.Arg315Cys
XM_011514323.1:c.943C>T XP_011512625.1:p.Arg315Cys
NM_001008844.2:c.943C>T NP_001008844.1:p.Arg315Cys
NM_001319034.1:c.943C>T NP_001305963.1:p.Arg315Cys
NM_004415.3:c.943C>T NP_004406.2:p.Arg315Cys
NM_004415.4:c.943C>T MANE Select NP_004406.2:p.Arg315Cys
NM_001008844.3:c.943C>T NP_001008844.1:p.Arg315Cys
NM_001319034.2:c.943C>T NP_001305963.1:p.Arg315Cys