Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA627144484

Gene: RAD51C HGNC NCBI

Linked Data

dbSNP Id: rs1467071020

gnomAD v2: 17-56769882-C-G

gnomAD v3: 17-58692521-C-G

gnomAD v4: 17-58692521-C-G

MyVariant Identifiers: chr17:g.56769882C>G (hg19) chr17:g.58692521C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58692521C>G , CM000679.2:g.58692521C>G	GRCh38
NC_000017.10:g.56769882C>G , CM000679.1:g.56769882C>G	GRCh37
NC_000017.9:g.54124881C>G	NCBI36
NG_023199.1:g.4920C>G , LRG_314:g.4920C>G
NG_047169.1:g.4559G>C

Transcript Alleles

HGVS	Amino-acid change
XM_006722001.4:c.-123C>G	XP_006722064.1:n.-123C>G
XM_006722002.4:c.-123C>G	XP_006722065.1:n.-123C>G
XR_934513.3:n.382C>G
XR_934514.3:n.382C>G

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