Canonical Allele Identifier: CA357603030
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 2576835
ClinVar RCV Id: RCV003323140
dbSNP Id: rs1445086221
gnomAD v2: 4-88533537-G-A
gnomAD v3: 4-87612385-G-A
gnomAD v4: 4-87612385-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612385G>A , CM000666.2:g.87612385G>A GRCh38
NC_000004.11:g.88533537G>A , CM000666.1:g.88533537G>A GRCh37
NC_000004.10:g.88752561G>A NCBI36
NG_011595.1:g.8857G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.199G>A MANE Select ENSP00000498766.1:p.Gly67Arg
ENST00000282478.7:c.199G>A ENSP00000282478.7:p.Gly67Arg
ENST00000399271.5:c.199G>A ENSP00000382213.1:p.Gly67Arg
NM_014208.3:c.199G>A MANE Select NP_055023.2:p.Gly67Arg