Canonical Allele Identifier: CA357603732
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612697G>A , CM000666.2:g.87612697G>A GRCh38
NC_000004.11:g.88533849G>A , CM000666.1:g.88533849G>A GRCh37
NC_000004.10:g.88752873G>A NCBI36
NG_011595.1:g.9169G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.511G>A MANE Select ENSP00000498766.1:p.Gly171Ser
ENST00000282478.7:c.511G>A ENSP00000282478.7:p.Gly171Ser
ENST00000399271.5:c.511G>A ENSP00000382213.1:p.Gly171Ser
NM_014208.3:c.511G>A MANE Select NP_055023.2:p.Gly171Ser