Canonical Allele Identifier: CA1474384330
Gene: DSPP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612160T= , CM000666.2:g.87612160T= GRCh38
NC_000004.11:g.88533312T= , CM000666.1:g.88533312T= GRCh37
NC_000004.10:g.88752336T= NCBI36
NG_011595.1:g.8632T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.107T= MANE Select ENSP00000498766.1:p.Leu36=
ENST00000282478.7:c.107T= ENSP00000282478.7:p.Leu36=
ENST00000399271.5:c.107T= ENSP00000382213.1:p.Leu36=
NM_014208.3:c.107T= MANE Select NP_055023.2:p.Leu36=
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