Canonical Allele Identifier: CA039598
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 264035
dbSNP Id: rs144641271
gnomAD v2: 6-7580345-C-T
gnomAD v3: 6-7580112-C-T
gnomAD v4: 6-7580112-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580112C>T , CM000668.2:g.7580112C>T GRCh38
NC_000006.11:g.7580345C>T , CM000668.1:g.7580345C>T GRCh37
NC_000006.10:g.7525344C>T NCBI36
NG_008803.1:g.43476C>T , LRG_423:g.43476C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3922C>T ENSP00000518230.1:p.Arg1308Trp
ENST00000379802.8:c.3922C>T MANE Select ENSP00000369129.3:p.Arg1308Trp
ENST00000379802.7:c.3922C>T ENSP00000369129.3:p.Arg1308Trp
ENST00000418664.2:c.3582+340C>T ENSP00000396591.2:n.3582+340C>T
NM_001008844.1:c.3582+340C>T NP_001008844.1:n.3582+340C>T
NM_004415.2:c.3922C>T , LRG_423t1:c.3922C>T NP_004406.2:p.Arg1308Trp
XM_011514323.1:c.3922C>T XP_011512625.1:p.Arg1308Trp
NM_001008844.2:c.3582+340C>T NP_001008844.1:n.3582+340C>T
NM_001319034.1:c.3922C>T NP_001305963.1:p.Arg1308Trp
NM_004415.3:c.3922C>T NP_004406.2:p.Arg1308Trp
NM_004415.4:c.3922C>T MANE Select NP_004406.2:p.Arg1308Trp
NM_001008844.3:c.3582+340C>T NP_001008844.1:n.3582+340C>T
NM_001319034.2:c.3922C>T NP_001305963.1:p.Arg1308Trp