Canonical Allele Identifier: CA3000790
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs781578036
gnomAD v2: 4-88532046-T-A
gnomAD v3: 4-87610894-T-A
gnomAD v4: 4-87610894-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610894T>A , CM000666.2:g.87610894T>A GRCh38
NC_000004.11:g.88532046T>A , CM000666.1:g.88532046T>A GRCh37
NC_000004.10:g.88751070T>A NCBI36
NG_011595.1:g.7366T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.-15T>A MANE Select ENSP00000498766.1:n.-15T>A
ENST00000282478.7:c.-15T>A ENSP00000282478.7:n.-15T>A
ENST00000399271.5:c.-15T>A ENSP00000382213.1:n.-15T>A
NM_014208.3:c.-15T>A MANE Select NP_055023.2:n.-15T>A