Canonical Allele Identifier: CA357603399
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612549T>A , CM000666.2:g.87612549T>A GRCh38
NC_000004.11:g.88533701T>A , CM000666.1:g.88533701T>A GRCh37
NC_000004.10:g.88752725T>A NCBI36
NG_011595.1:g.9021T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.363T>A MANE Select ENSP00000498766.1:p.His121Gln
ENST00000282478.7:c.363T>A ENSP00000282478.7:p.His121Gln
ENST00000399271.5:c.363T>A ENSP00000382213.1:p.His121Gln
NM_014208.3:c.363T>A MANE Select NP_055023.2:p.His121Gln