Canonical Allele Identifier: CA1474384419
Gene: DSPP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612372T= , CM000666.2:g.87612372T= GRCh38
NC_000004.11:g.88533524T= , CM000666.1:g.88533524T= GRCh37
NC_000004.10:g.88752548T= NCBI36
NG_011595.1:g.8844T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.186T= MANE Select ENSP00000498766.1:p.His62=
ENST00000282478.7:c.186T= ENSP00000282478.7:p.His62=
ENST00000399271.5:c.186T= ENSP00000382213.1:p.His62=
NM_014208.3:c.186T= MANE Select NP_055023.2:p.His62=