Canonical Allele Identifier: CA552859214
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1468931178
gnomAD v2: 4-88532052-C-T
gnomAD v4: 4-87610900-C-T
MyVariant Identifiers: chr4:g.88532052C>T (hg19) chr4:g.87610900C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610900C>T , CM000666.2:g.87610900C>T GRCh38
NC_000004.11:g.88532052C>T , CM000666.1:g.88532052C>T GRCh37
NC_000004.10:g.88751076C>T NCBI36
NG_011595.1:g.7372C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.-9C>T MANE Select ENSP00000498766.1:n.-9C>T
ENST00000282478.7:c.-9C>T ENSP00000282478.7:n.-9C>T
ENST00000399271.5:c.-9C>T ENSP00000382213.1:n.-9C>T
NM_014208.3:c.-9C>T MANE Select NP_055023.2:n.-9C>T
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