Canonical Allele Identifier: CA2671358360

Gene: DSPP

Linked Data

• gnomAD v4: 4-87612206-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87612206T>G , CM000666.2:g.87612206T>G	GRCh38
NC_000004.11:g.88533358T>G , CM000666.1:g.88533358T>G	GRCh37
NC_000004.10:g.88752382T>G	NCBI36
NG_011595.1:g.8678T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651931.1:c.135+18T>G MANE Select	ENSP00000498766.1:n.135+18T>G
ENST00000282478.7:c.135+18T>G	ENSP00000282478.7:n.135+18T>G
ENST00000399271.5:c.135+18T>G	ENSP00000382213.1:n.135+18T>G
NM_014208.3:c.135+18T>G MANE Select	NP_055023.2:n.135+18T>G