Canonical Allele Identifier: CA440294145
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88533737A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612585A>G , CM000666.2:g.87612585A>G GRCh38
NC_000004.11:g.88533737A>G , CM000666.1:g.88533737A>G GRCh37
NC_000004.10:g.88752761A>G NCBI36
NG_011595.1:g.9057A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.399A>G MANE Select ENSP00000498766.1:p.Ala133=
ENST00000282478.7:c.399A>G ENSP00000282478.7:p.Ala133=
ENST00000399271.5:c.399A>G ENSP00000382213.1:p.Ala133=
NM_014208.3:c.399A>G MANE Select NP_055023.2:p.Ala133=