Canonical Allele Identifier: CA16042653
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 372958
ClinVar RCV Id: RCV000413488
dbSNP Id: rs1057518101
MyVariant Identifiers: chr6:g.7584435G>T (hg19) chr6:g.7584202G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584202G>T , CM000668.2:g.7584202G>T GRCh38
NC_000006.11:g.7584435G>T , CM000668.1:g.7584435G>T GRCh37
NC_000006.10:g.7529434G>T NCBI36
NG_008803.1:g.47566G>T , LRG_423:g.47566G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.5611G>T ENSP00000518230.1:p.Glu1871Ter
ENST00000379802.8:c.6940G>T MANE Select ENSP00000369129.3:p.Glu2314Ter
ENST00000379802.7:c.6940G>T ENSP00000369129.3:p.Glu2314Ter
ENST00000418664.2:c.5143G>T ENSP00000396591.2:p.Glu1715Ter
NM_001008844.1:c.5143G>T NP_001008844.1:p.Glu1715Ter
NM_004415.2:c.6940G>T , LRG_423t1:c.6940G>T NP_004406.2:p.Glu2314Ter
XM_011514323.1:c.5611G>T XP_011512625.1:p.Glu1871Ter
NM_001008844.2:c.5143G>T NP_001008844.1:p.Glu1715Ter
NM_001319034.1:c.5611G>T NP_001305963.1:p.Glu1871Ter
NM_004415.3:c.6940G>T NP_004406.2:p.Glu2314Ter
NM_004415.4:c.6940G>T MANE Select NP_004406.2:p.Glu2314Ter
NM_001008844.3:c.5143G>T NP_001008844.1:p.Glu1715Ter
NM_001319034.2:c.5611G>T NP_001305963.1:p.Glu1871Ter
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