Canonical Allele Identifier: CA357603582
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612631A>G , CM000666.2:g.87612631A>G GRCh38
NC_000004.11:g.88533783A>G , CM000666.1:g.88533783A>G GRCh37
NC_000004.10:g.88752807A>G NCBI36
NG_011595.1:g.9103A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.445A>G MANE Select ENSP00000498766.1:p.Thr149Ala
ENST00000282478.7:c.445A>G ENSP00000282478.7:p.Thr149Ala
ENST00000399271.5:c.445A>G ENSP00000382213.1:p.Thr149Ala
NM_014208.3:c.445A>G MANE Select NP_055023.2:p.Thr149Ala