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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA10609242
Gene: CDC73
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294466
ClinVar RCV Id:
RCV000315585
RCV000370143
RCV000395636
dbSNP Id:
rs565579791
gnomAD v3:
1-193254353-G-A
gnomAD v4:
1-193254353-G-A
MyVariant Identifiers:
chr1:g.193223483G>A (hg19)
chr1:g.193254353G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.193254353G>A , CM000663.2:g.193254353G>A
GRCh38
NC_000001.10:g.193223483G>A , CM000663.1:g.193223483G>A
GRCh37
NC_000001.9:g.191490106G>A
NCBI36
NG_012691.1:g.137396G>A , LRG_507:g.137396G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000367435.5:c.*3641G>A
MANE Select
ENSP00000356405.4:n.*3641G>A
NM_024529.4:c.*3641G>A , LRG_507t1:c.*3641G>A
NP_078805.3:n.*3641G>A
NM_024529.5:c.*3641G>A
MANE Select
NP_078805.3:n.*3641G>A
Search 100 bp 5'
Search 100 bp 3'