Canonical Allele Identifier: CA100849696
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1057326990
gnomAD v4: 4-87612634-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612634A>G , CM000666.2:g.87612634A>G GRCh38
NC_000004.11:g.88533786A>G , CM000666.1:g.88533786A>G GRCh37
NC_000004.10:g.88752810A>G NCBI36
NG_011595.1:g.9106A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.448A>G MANE Select ENSP00000498766.1:p.Asn150Asp
ENST00000282478.7:c.448A>G ENSP00000282478.7:p.Asn150Asp
ENST00000399271.5:c.448A>G ENSP00000382213.1:p.Asn150Asp
NM_014208.3:c.448A>G MANE Select NP_055023.2:p.Asn150Asp