Canonical Allele Identifier: CA357603756
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612707A>T , CM000666.2:g.87612707A>T GRCh38
NC_000004.11:g.88533859A>T , CM000666.1:g.88533859A>T GRCh37
NC_000004.10:g.88752883A>T NCBI36
NG_011595.1:g.9179A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.521A>T MANE Select ENSP00000498766.1:p.Glu174Val
ENST00000282478.7:c.521A>T ENSP00000282478.7:p.Glu174Val
ENST00000399271.5:c.521A>T ENSP00000382213.1:p.Glu174Val
NM_014208.3:c.521A>T MANE Select NP_055023.2:p.Glu174Val