Canonical Allele Identifier: CA553085321
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1357018769
gnomAD v2: 4-88533456-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612304G>A , CM000666.2:g.87612304G>A GRCh38
NC_000004.11:g.88533456G>A , CM000666.1:g.88533456G>A GRCh37
NC_000004.10:g.88752480G>A NCBI36
NG_011595.1:g.8776G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.136-18G>A MANE Select ENSP00000498766.1:n.136-18G>A
ENST00000282478.7:c.136-18G>A ENSP00000282478.7:n.136-18G>A
ENST00000399271.5:c.136-18G>A ENSP00000382213.1:n.136-18G>A
NM_014208.3:c.136-18G>A MANE Select NP_055023.2:n.136-18G>A