ClinGen Allele Registry
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Canonical Allele Identifier:
CA12229559
Gene: UBDP1
HGNC
NCBI
Linked Data - Expert Curation
COSMIC:
COSN2158954 (not active)
COSN6317992 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.29466637G>A
GRCh37
chr6:g.29434414G>A
Linked Data - Sequence & Population
gnomAD v2:
6:29434414 G / A
gnomAD v3:
6:29466637 G / A
gnomAD v4:
chr6-29466637-G-A
Joint Max Group AF
0.21170208 (EAS)
Genomes Max Group AF
0.21170208 (EAS)
Linked Data - NCBI & NCI
dbSNP:
4713226
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29466637G>A , CM000668.2:g.29466637G>A
GRCh38
NC_000006.11:g.29434414G>A , CM000668.1:g.29434414G>A
GRCh37
NC_000006.10:g.29542393G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000457888.2:n.23-1682C>T
Search 100 bp 5'
Search 100 bp 3'