Canonical Allele Identifier: CA1474384501
Gene: DSPP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612559C= , CM000666.2:g.87612559C= GRCh38
NC_000004.11:g.88533711C= , CM000666.1:g.88533711C= GRCh37
NC_000004.10:g.88752735C= NCBI36
NG_011595.1:g.9031C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.373C= MANE Select ENSP00000498766.1:p.His125=
ENST00000282478.7:c.373C= ENSP00000282478.7:p.His125=
ENST00000399271.5:c.373C= ENSP00000382213.1:p.His125=
NM_014208.3:c.373C= MANE Select NP_055023.2:p.His125=
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