Canonical Allele Identifier: CA2578139764
Gene: DSPP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612212T>C , CM000666.2:g.87612212T>C GRCh38
NC_000004.11:g.88533364T>C , CM000666.1:g.88533364T>C GRCh37
NC_000004.10:g.88752388T>C NCBI36
NG_011595.1:g.8684T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.135+24T>C MANE Select ENSP00000498766.1:n.135+24T>C
ENST00000282478.7:c.135+24T>C ENSP00000282478.7:n.135+24T>C
ENST00000399271.5:c.135+24T>C ENSP00000382213.1:n.135+24T>C
NM_014208.3:c.135+24T>C MANE Select NP_055023.2:n.135+24T>C