Allele Registry

Canonical Allele Identifier: CA10960429

Gene: DPH5-DT HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.101075443T>C

GRCh37 chr1:g.101540999T>C

Linked Data - Sequence & Population

gnomAD v2:

1:101540999 T / C

gnomAD v3:

1:101075443 T / C

gnomAD v4:

chr1-101075443-T-C

Joint Max Group AF 0.31518278 (AMR)

Genomes Max Group AF 0.31518278 (AMR)

Linked Data - NCBI & NCI

dbSNP:

17450029

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.101075443T>C , CM000663.2:g.101075443T>C	GRCh38
NC_000001.10:g.101540999T>C , CM000663.1:g.101540999T>C	GRCh37
NC_000001.9:g.101313587T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_109849.1:n.265T>C

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