Canonical Allele Identifier: CA357603114
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs748231789
gnomAD v2: 4-88533573-G-A
gnomAD v4: 4-87612421-G-A
COSMIC: COSM3606841
MyVariant Identifiers: chr4:g.88533573G>A (hg19) chr4:g.87612421G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612421G>A , CM000666.2:g.87612421G>A GRCh38
NC_000004.11:g.88533573G>A , CM000666.1:g.88533573G>A GRCh37
NC_000004.10:g.88752597G>A NCBI36
NG_011595.1:g.8893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.235G>A MANE Select ENSP00000498766.1:p.Glu79Lys
ENST00000282478.7:c.235G>A ENSP00000282478.7:p.Glu79Lys
ENST00000399271.5:c.235G>A ENSP00000382213.1:p.Glu79Lys
NM_014208.3:c.235G>A MANE Select NP_055023.2:p.Glu79Lys
Search 100 bp 5'
Search 100 bp 3'