Canonical Allele Identifier: CA2671358369
Gene: DSPP HGNC NCBI

Linked Data

gnomAD v4: 4-87612253-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612253C>G , CM000666.2:g.87612253C>G GRCh38
NC_000004.11:g.88533405C>G , CM000666.1:g.88533405C>G GRCh37
NC_000004.10:g.88752429C>G NCBI36
NG_011595.1:g.8725C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.135+65C>G MANE Select ENSP00000498766.1:n.135+65C>G
ENST00000282478.7:c.135+65C>G ENSP00000282478.7:n.135+65C>G
ENST00000399271.5:c.135+65C>G ENSP00000382213.1:n.135+65C>G
NM_014208.3:c.135+65C>G MANE Select NP_055023.2:n.135+65C>G