Canonical Allele Identifier: CA100849259
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1050476689
gnomAD v4: 4-87612231-T-C
MyVariant Identifiers: chr4:g.88533383T>C (hg19) chr4:g.87612231T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612231T>C , CM000666.2:g.87612231T>C GRCh38
NC_000004.11:g.88533383T>C , CM000666.1:g.88533383T>C GRCh37
NC_000004.10:g.88752407T>C NCBI36
NG_011595.1:g.8703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.135+43T>C MANE Select ENSP00000498766.1:n.135+43T>C
ENST00000282478.7:c.135+43T>C ENSP00000282478.7:n.135+43T>C
ENST00000399271.5:c.135+43T>C ENSP00000382213.1:n.135+43T>C
NM_014208.3:c.135+43T>C MANE Select NP_055023.2:n.135+43T>C
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