Canonical Allele Identifier: CA440294110
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1298489607
gnomAD v2: 4-88533713-T-C
MyVariant Identifiers: chr4:g.88533713T>C (hg19) chr4:g.87612561T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612561T>C , CM000666.2:g.87612561T>C GRCh38
NC_000004.11:g.88533713T>C , CM000666.1:g.88533713T>C GRCh37
NC_000004.10:g.88752737T>C NCBI36
NG_011595.1:g.9033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.375T>C MANE Select ENSP00000498766.1:p.His125=
ENST00000282478.7:c.375T>C ENSP00000282478.7:p.His125=
ENST00000399271.5:c.375T>C ENSP00000382213.1:p.His125=
NM_014208.3:c.375T>C MANE Select NP_055023.2:p.His125=
Search 100 bp 5'
Search 100 bp 3'