Canonical Allele Identifier: CA16042651
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 372644
ClinVar RCV Id: RCV000413527
dbSNP Id: rs1057517903
MyVariant Identifiers: chr6:g.7575527G>C (hg19) chr6:g.7575294G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7575294G>C , CM000668.2:g.7575294G>C GRCh38
NC_000006.11:g.7575527G>C , CM000668.1:g.7575527G>C GRCh37
NC_000006.10:g.7520526G>C NCBI36
NG_008803.1:g.38658G>C , LRG_423:g.38658G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.2437-1G>C ENSP00000518230.1:n.2437-1G>C
ENST00000684395.1:n.1078-1G>C
ENST00000379802.8:c.2437-1G>C MANE Select ENSP00000369129.3:n.2437-1G>C
ENST00000379802.7:c.2437-1G>C ENSP00000369129.3:n.2437-1G>C
ENST00000418664.2:c.2437-1G>C ENSP00000396591.2:n.2437-1G>C
NM_001008844.1:c.2437-1G>C NP_001008844.1:n.2437-1G>C
NM_004415.2:c.2437-1G>C , LRG_423t1:c.2437-1G>C NP_004406.2:n.2437-1G>C
XM_011514323.1:c.2437-1G>C XP_011512625.1:n.2437-1G>C
NM_001008844.2:c.2437-1G>C NP_001008844.1:n.2437-1G>C
NM_001319034.1:c.2437-1G>C NP_001305963.1:n.2437-1G>C
NM_004415.3:c.2437-1G>C NP_004406.2:n.2437-1G>C
NM_004415.4:c.2437-1G>C MANE Select NP_004406.2:n.2437-1G>C
NM_001008844.3:c.2437-1G>C NP_001008844.1:n.2437-1G>C
NM_001319034.2:c.2437-1G>C NP_001305963.1:n.2437-1G>C
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