Allele Registry

Canonical Allele Identifier: CA27641785

Gene: DPH5-DT HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr1:g.101086370T>C

GRCh37 chr1:g.101551926T>C

Linked Data - Sequence & Population

gnomAD v2:

1:101551926 T / C

gnomAD v3:

1:101086370 T / C

gnomAD v4:

chr1-101086370-T-C

Joint Max Group AF 0.08591468 (NFE)

Genomes Max Group AF 0.08591468 (NFE)

Linked Data - NCBI & NCI

dbSNP:

17410015

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.101086370T>C , CM000663.2:g.101086370T>C	GRCh38
NC_000001.10:g.101551926T>C , CM000663.1:g.101551926T>C	GRCh37
NC_000001.9:g.101324514T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_109849.1:n.799-482T>C

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