Canonical Allele Identifier: CA357602917
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612332A>C , CM000666.2:g.87612332A>C GRCh38
NC_000004.11:g.88533484A>C , CM000666.1:g.88533484A>C GRCh37
NC_000004.10:g.88752508A>C NCBI36
NG_011595.1:g.8804A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.146A>C MANE Select ENSP00000498766.1:p.Asn49Thr
ENST00000282478.7:c.146A>C ENSP00000282478.7:p.Asn49Thr
ENST00000399271.5:c.146A>C ENSP00000382213.1:p.Asn49Thr
NM_014208.3:c.146A>C MANE Select NP_055023.2:p.Asn49Thr