Canonical Allele Identifier: CA3000853
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 287643
ClinVar RCV Id: RCV000377403
dbSNP Id: rs755468936
gnomAD v2: 4-88533552-A-G
gnomAD v4: 4-87612400-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612400A>G , CM000666.2:g.87612400A>G GRCh38
NC_000004.11:g.88533552A>G , CM000666.1:g.88533552A>G GRCh37
NC_000004.10:g.88752576A>G NCBI36
NG_011595.1:g.8872A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.214A>G MANE Select ENSP00000498766.1:p.Thr72Ala
ENST00000282478.7:c.214A>G ENSP00000282478.7:p.Thr72Ala
ENST00000399271.5:c.214A>G ENSP00000382213.1:p.Thr72Ala
NM_014208.3:c.214A>G MANE Select NP_055023.2:p.Thr72Ala