Canonical Allele Identifier: CA658796706
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 517257
ClinVar RCV Id: RCV000615703
dbSNP Id: rs201633815
gnomAD v4: 6-7567346-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567346T>A , CM000668.2:g.7567346T>A GRCh38
NC_000006.11:g.7567579T>A , CM000668.1:g.7567579T>A GRCh37
NC_000006.10:g.7512578T>A NCBI36
NG_008803.1:g.30710T>A , LRG_423:g.30710T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.1045-8T>A ENSP00000518230.1:n.1045-8T>A
ENST00000682228.1:n.369-8T>A
ENST00000379802.8:c.1045-8T>A MANE Select ENSP00000369129.3:n.1045-8T>A
ENST00000379802.7:c.1045-8T>A ENSP00000369129.3:n.1045-8T>A
ENST00000418664.2:c.1045-8T>A ENSP00000396591.2:n.1045-8T>A
NM_001008844.1:c.1045-8T>A NP_001008844.1:n.1045-8T>A
NM_004415.2:c.1045-8T>A , LRG_423t1:c.1045-8T>A NP_004406.2:n.1045-8T>A
XM_011514323.1:c.1045-8T>A XP_011512625.1:n.1045-8T>A
NM_001008844.2:c.1045-8T>A NP_001008844.1:n.1045-8T>A
NM_001319034.1:c.1045-8T>A NP_001305963.1:n.1045-8T>A
NM_004415.3:c.1045-8T>A NP_004406.2:n.1045-8T>A
NM_004415.4:c.1045-8T>A MANE Select NP_004406.2:n.1045-8T>A
NM_001008844.3:c.1045-8T>A NP_001008844.1:n.1045-8T>A
NM_001319034.2:c.1045-8T>A NP_001305963.1:n.1045-8T>A