Canonical Allele Identifier: CA357603258
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1727754419
gnomAD v3: 4-87612488-A-T
gnomAD v4: 4-87612488-A-T
MyVariant Identifiers: chr4:g.88533640A>T (hg19) chr4:g.87612488A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612488A>T , CM000666.2:g.87612488A>T GRCh38
NC_000004.11:g.88533640A>T , CM000666.1:g.88533640A>T GRCh37
NC_000004.10:g.88752664A>T NCBI36
NG_011595.1:g.8960A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.302A>T MANE Select ENSP00000498766.1:p.Asn101Ile
ENST00000282478.7:c.302A>T ENSP00000282478.7:p.Asn101Ile
ENST00000399271.5:c.302A>T ENSP00000382213.1:p.Asn101Ile
NM_014208.3:c.302A>T MANE Select NP_055023.2:p.Asn101Ile
Search 100 bp 5'
Search 100 bp 3'