Canonical Allele Identifier: CA799576395
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs749040560
gnomAD v3: 4-87610898-T-C
gnomAD v4: 4-87610898-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610898T>C , CM000666.2:g.87610898T>C GRCh38
NC_000004.11:g.88532050T>C , CM000666.1:g.88532050T>C GRCh37
NC_000004.10:g.88751074T>C NCBI36
NG_011595.1:g.7370T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.-11T>C MANE Select ENSP00000498766.1:n.-11T>C
ENST00000282478.7:c.-11T>C ENSP00000282478.7:n.-11T>C
ENST00000399271.5:c.-11T>C ENSP00000382213.1:n.-11T>C
NM_014208.3:c.-11T>C MANE Select NP_055023.2:n.-11T>C