Canonical Allele Identifier: CA357603525
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612605T>A , CM000666.2:g.87612605T>A GRCh38
NC_000004.11:g.88533757T>A , CM000666.1:g.88533757T>A GRCh37
NC_000004.10:g.88752781T>A NCBI36
NG_011595.1:g.9077T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.419T>A MANE Select ENSP00000498766.1:p.Val140Glu
ENST00000282478.7:c.419T>A ENSP00000282478.7:p.Val140Glu
ENST00000399271.5:c.419T>A ENSP00000382213.1:p.Val140Glu
NM_014208.3:c.419T>A MANE Select NP_055023.2:p.Val140Glu