Canonical Allele Identifier: CA357602898
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 2571632
ClinVar RCV Id: RCV003313342
dbSNP Id: rs1218312896
gnomAD v2: 4-88533477-G-A
gnomAD v3: 4-87612325-G-A
gnomAD v4: 4-87612325-G-A
MyVariant Identifiers: chr4:g.88533477G>A (hg19) chr4:g.87612325G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612325G>A , CM000666.2:g.87612325G>A GRCh38
NC_000004.11:g.88533477G>A , CM000666.1:g.88533477G>A GRCh37
NC_000004.10:g.88752501G>A NCBI36
NG_011595.1:g.8797G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.139G>A MANE Select ENSP00000498766.1:p.Glu47Lys
ENST00000282478.7:c.139G>A ENSP00000282478.7:p.Glu47Lys
ENST00000399271.5:c.139G>A ENSP00000382213.1:p.Glu47Lys
NM_014208.3:c.139G>A MANE Select NP_055023.2:p.Glu47Lys
Search 100 bp 5'
Search 100 bp 3'