Canonical Allele Identifier: CA2671358086
Gene: DSPP HGNC NCBI

Linked Data

gnomAD v4: 4-87610830-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610830G>T , CM000666.2:g.87610830G>T GRCh38
NC_000004.11:g.88531982G>T , CM000666.1:g.88531982G>T GRCh37
NC_000004.10:g.88751006G>T NCBI36
NG_011595.1:g.7302G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.-28-51G>T MANE Select ENSP00000498766.1:n.-28-51G>T
ENST00000399271.5:c.-28-51G>T ENSP00000382213.1:n.-28-51G>T
NM_014208.3:c.-28-51G>T MANE Select NP_055023.2:n.-28-51G>T