Canonical Allele Identifier: CA2706381740
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs2109995394

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612209C>A , CM000666.2:g.87612209C>A GRCh38
NC_000004.11:g.88533361C>A , CM000666.1:g.88533361C>A GRCh37
NC_000004.10:g.88752385C>A NCBI36
NG_011595.1:g.8681C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.135+21C>A MANE Select ENSP00000498766.1:n.135+21C>A
ENST00000282478.7:c.135+21C>A ENSP00000282478.7:n.135+21C>A
ENST00000399271.5:c.135+21C>A ENSP00000382213.1:n.135+21C>A
NM_014208.3:c.135+21C>A MANE Select NP_055023.2:n.135+21C>A