Canonical Allele Identifier: CA16612070
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 405233
ClinVar RCV Id: RCV000465188 RCV001377406
dbSNP Id: rs1060500609
gnomAD v4: 6-7569185-G-T
MyVariant Identifiers: chr6:g.7569418G>T (hg19) chr6:g.7569185G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7569185G>T , CM000668.2:g.7569185G>T GRCh38
NC_000006.11:g.7569418G>T , CM000668.1:g.7569418G>T GRCh37
NC_000006.10:g.7514417G>T NCBI36
NG_008803.1:g.32549G>T , LRG_423:g.32549G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.1420-1G>T ENSP00000518230.1:n.1420-1G>T
ENST00000379802.8:c.1420-1G>T MANE Select ENSP00000369129.3:n.1420-1G>T
ENST00000379802.7:c.1420-1G>T ENSP00000369129.3:n.1420-1G>T
ENST00000418664.2:c.1420-1G>T ENSP00000396591.2:n.1420-1G>T
NM_001008844.1:c.1420-1G>T NP_001008844.1:n.1420-1G>T
NM_004415.2:c.1420-1G>T , LRG_423t1:c.1420-1G>T NP_004406.2:n.1420-1G>T
XM_011514323.1:c.1420-1G>T XP_011512625.1:n.1420-1G>T
NM_001008844.2:c.1420-1G>T NP_001008844.1:n.1420-1G>T
NM_001319034.1:c.1420-1G>T NP_001305963.1:n.1420-1G>T
NM_004415.3:c.1420-1G>T NP_004406.2:n.1420-1G>T
NM_004415.4:c.1420-1G>T MANE Select NP_004406.2:n.1420-1G>T
NM_001008844.3:c.1420-1G>T NP_001008844.1:n.1420-1G>T
NM_001319034.2:c.1420-1G>T NP_001305963.1:n.1420-1G>T
Search 100 bp 5'
Search 100 bp 3'