Canonical Allele Identifier: CA357601901
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610949G>A , CM000666.2:g.87610949G>A GRCh38
NC_000004.11:g.88532101G>A , CM000666.1:g.88532101G>A GRCh37
NC_000004.10:g.88751125G>A NCBI36
NG_011595.1:g.7421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.41G>A MANE Select ENSP00000498766.1:p.Trp14Ter
ENST00000282478.7:c.41G>A ENSP00000282478.7:p.Trp14Ter
ENST00000399271.5:c.41G>A ENSP00000382213.1:p.Trp14Ter
NM_014208.3:c.41G>A MANE Select NP_055023.2:p.Trp14Ter