Canonical Allele Identifier: CA100849235
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs956897515
gnomAD v2: 4-88533307-G-C
gnomAD v4: 4-87612155-G-C
MyVariant Identifiers: chr4:g.88533307G>C (hg19) chr4:g.87612155G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612155G>C , CM000666.2:g.87612155G>C GRCh38
NC_000004.11:g.88533307G>C , CM000666.1:g.88533307G>C GRCh37
NC_000004.10:g.88752331G>C NCBI36
NG_011595.1:g.8627G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.102G>C MANE Select ENSP00000498766.1:p.Leu34Phe
ENST00000282478.7:c.102G>C ENSP00000282478.7:p.Leu34Phe
ENST00000399271.5:c.102G>C ENSP00000382213.1:p.Leu34Phe
NM_014208.3:c.102G>C MANE Select NP_055023.2:p.Leu34Phe
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