Canonical Allele Identifier: CA126929
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 16858
dbSNP Id: rs36094464
gnomAD v2: 4-88533540-A-T
gnomAD v3: 4-87612388-A-T
gnomAD v4: 4-87612388-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612388A>T , CM000666.2:g.87612388A>T GRCh38
NC_000004.11:g.88533540A>T , CM000666.1:g.88533540A>T GRCh37
NC_000004.10:g.88752564A>T NCBI36
NG_011595.1:g.8860A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.202A>T MANE Select ENSP00000498766.1:p.Arg68Trp
ENST00000282478.7:c.202A>T ENSP00000282478.7:p.Arg68Trp
ENST00000399271.5:c.202A>T ENSP00000382213.1:p.Arg68Trp
NM_014208.3:c.202A>T MANE Select NP_055023.2:p.Arg68Trp