Canonical Allele Identifier: CA357603762
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612709G>C , CM000666.2:g.87612709G>C GRCh38
NC_000004.11:g.88533861G>C , CM000666.1:g.88533861G>C GRCh37
NC_000004.10:g.88752885G>C NCBI36
NG_011595.1:g.9181G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.523G>C MANE Select ENSP00000498766.1:p.Asp175His
ENST00000282478.7:c.523G>C ENSP00000282478.7:p.Asp175His
ENST00000399271.5:c.523G>C ENSP00000382213.1:p.Asp175His
NM_014208.3:c.523G>C MANE Select NP_055023.2:p.Asp175His