Canonical Allele Identifier: CA3000906
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs772901532
ExAC: 4:88533841 G / C
gnomAD v2: 4-88533841-G-C
gnomAD v3: 4-87612689-G-C
gnomAD v4: 4-87612689-G-C
MyVariant Identifiers: chr4:g.88533841G>C (hg19) chr4:g.87612689G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612689G>C , CM000666.2:g.87612689G>C GRCh38
NC_000004.11:g.88533841G>C , CM000666.1:g.88533841G>C GRCh37
NC_000004.10:g.88752865G>C NCBI36
NG_011595.1:g.9161G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.503G>C MANE Select ENSP00000498766.1:p.Gly168Ala
ENST00000282478.7:c.503G>C ENSP00000282478.7:p.Gly168Ala
ENST00000399271.5:c.503G>C ENSP00000382213.1:p.Gly168Ala
NM_014208.3:c.503G>C MANE Select NP_055023.2:p.Gly168Ala
Search 100 bp 5'
Search 100 bp 3'