Canonical Allele Identifier: CA357602960
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs972753953
gnomAD v3: 4-87612352-G-T
gnomAD v4: 4-87612352-G-T
MyVariant Identifiers: chr4:g.88533504G>T (hg19) chr4:g.87612352G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612352G>T , CM000666.2:g.87612352G>T GRCh38
NC_000004.11:g.88533504G>T , CM000666.1:g.88533504G>T GRCh37
NC_000004.10:g.88752528G>T NCBI36
NG_011595.1:g.8824G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.166G>T MANE Select ENSP00000498766.1:p.Glu56Ter
ENST00000282478.7:c.166G>T ENSP00000282478.7:p.Glu56Ter
ENST00000399271.5:c.166G>T ENSP00000382213.1:p.Glu56Ter
NM_014208.3:c.166G>T MANE Select NP_055023.2:p.Glu56Ter
Search 100 bp 5'
Search 100 bp 3'