Canonical Allele Identifier: CA3000828
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs375217534
ExAC: 4:88533390 A / G
gnomAD v2: 4-88533390-A-G
gnomAD v3: 4-87612238-A-G
gnomAD v4: 4-87612238-A-G
MyVariant Identifiers: chr4:g.88533390A>G (hg19) chr4:g.87612238A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612238A>G , CM000666.2:g.87612238A>G GRCh38
NC_000004.11:g.88533390A>G , CM000666.1:g.88533390A>G GRCh37
NC_000004.10:g.88752414A>G NCBI36
NG_011595.1:g.8710A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.135+50A>G MANE Select ENSP00000498766.1:n.135+50A>G
ENST00000282478.7:c.135+50A>G ENSP00000282478.7:n.135+50A>G
ENST00000399271.5:c.135+50A>G ENSP00000382213.1:n.135+50A>G
NM_014208.3:c.135+50A>G MANE Select NP_055023.2:n.135+50A>G
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