Canonical Allele Identifier: CA3000909
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 3086026
ClinVar RCV Id: RCV004377346
dbSNP Id: rs370969954
ExAC: 4:88533850 G / A
gnomAD v2: 4-88533850-G-A
gnomAD v3: 4-87612698-G-A
gnomAD v4: 4-87612698-G-A
MyVariant Identifiers: chr4:g.88533850G>A (hg19) chr4:g.87612698G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612698G>A , CM000666.2:g.87612698G>A GRCh38
NC_000004.11:g.88533850G>A , CM000666.1:g.88533850G>A GRCh37
NC_000004.10:g.88752874G>A NCBI36
NG_011595.1:g.9170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.512G>A MANE Select ENSP00000498766.1:p.Gly171Asp
ENST00000282478.7:c.512G>A ENSP00000282478.7:p.Gly171Asp
ENST00000399271.5:c.512G>A ENSP00000382213.1:p.Gly171Asp
NM_014208.3:c.512G>A MANE Select NP_055023.2:p.Gly171Asp
Search 100 bp 5'
Search 100 bp 3'