Canonical Allele Identifier: CA3000863
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs201380040
gnomAD v2: 4-88533603-G-C
gnomAD v3: 4-87612451-G-C
gnomAD v4: 4-87612451-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612451G>C , CM000666.2:g.87612451G>C GRCh38
NC_000004.11:g.88533603G>C , CM000666.1:g.88533603G>C GRCh37
NC_000004.10:g.88752627G>C NCBI36
NG_011595.1:g.8923G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.265G>C MANE Select ENSP00000498766.1:p.Gly89Arg
ENST00000282478.7:c.265G>C ENSP00000282478.7:p.Gly89Arg
ENST00000399271.5:c.265G>C ENSP00000382213.1:p.Gly89Arg
NM_014208.3:c.265G>C MANE Select NP_055023.2:p.Gly89Arg