Canonical Allele Identifier: CA357602948
Gene: DSPP HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88533499T>C (hg19) chr4:g.87612347T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612347T>C , CM000666.2:g.87612347T>C GRCh38
NC_000004.11:g.88533499T>C , CM000666.1:g.88533499T>C GRCh37
NC_000004.10:g.88752523T>C NCBI36
NG_011595.1:g.8819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.161T>C MANE Select ENSP00000498766.1:p.Ile54Thr
ENST00000282478.7:c.161T>C ENSP00000282478.7:p.Ile54Thr
ENST00000399271.5:c.161T>C ENSP00000382213.1:p.Ile54Thr
NM_014208.3:c.161T>C MANE Select NP_055023.2:p.Ile54Thr
Search 100 bp 5'
Search 100 bp 3'