Canonical Allele Identifier: CA2578139767
Gene: DSPP HGNC NCBI

Linked Data

gnomAD v4: 4-87612233-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612233G>T , CM000666.2:g.87612233G>T GRCh38
NC_000004.11:g.88533385G>T , CM000666.1:g.88533385G>T GRCh37
NC_000004.10:g.88752409G>T NCBI36
NG_011595.1:g.8705G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.135+45G>T MANE Select ENSP00000498766.1:n.135+45G>T
ENST00000282478.7:c.135+45G>T ENSP00000282478.7:n.135+45G>T
ENST00000399271.5:c.135+45G>T ENSP00000382213.1:n.135+45G>T
NM_014208.3:c.135+45G>T MANE Select NP_055023.2:n.135+45G>T