Canonical Allele Identifier: CA552859305
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1196173680
gnomAD v2: 4-88533166-T-A
gnomAD v3: 4-87612014-T-A
gnomAD v4: 4-87612014-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612014T>A , CM000666.2:g.87612014T>A GRCh38
NC_000004.11:g.88533166T>A , CM000666.1:g.88533166T>A GRCh37
NC_000004.10:g.88752190T>A NCBI36
NG_011595.1:g.8486T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.52-91T>A MANE Select ENSP00000498766.1:n.52-91T>A
ENST00000282478.7:c.52-91T>A ENSP00000282478.7:n.52-91T>A
ENST00000399271.5:c.52-91T>A ENSP00000382213.1:n.52-91T>A
NM_014208.3:c.52-91T>A MANE Select NP_055023.2:n.52-91T>A