Canonical Allele Identifier: CA3000912
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 1463304
ClinVar RCV Id: RCV001956600
dbSNP Id: rs767701898
ExAC: 4:88533865 T / A
gnomAD v2: 4-88533865-T-A
gnomAD v3: 4-87612713-T-A
gnomAD v4: 4-87612713-T-A
MyVariant Identifiers: chr4:g.88533865T>A (hg19) chr4:g.87612713T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612713T>A , CM000666.2:g.87612713T>A GRCh38
NC_000004.11:g.88533865T>A , CM000666.1:g.88533865T>A GRCh37
NC_000004.10:g.88752889T>A NCBI36
NG_011595.1:g.9185T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.527T>A MANE Select ENSP00000498766.1:p.Val176Asp
ENST00000282478.7:c.527T>A ENSP00000282478.7:p.Val176Asp
ENST00000399271.5:c.527T>A ENSP00000382213.1:p.Val176Asp
NM_014208.3:c.527T>A MANE Select NP_055023.2:p.Val176Asp
Search 100 bp 5'
Search 100 bp 3'