Canonical Allele Identifier: CA362675437
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 2943373
ClinVar RCV Id: RCV003800491

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567353G>C , CM000668.2:g.7567353G>C GRCh38
NC_000006.11:g.7567586G>C , CM000668.1:g.7567586G>C GRCh37
NC_000006.10:g.7512585G>C NCBI36
NG_008803.1:g.30717G>C , LRG_423:g.30717G>C

Transcript Alleles

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