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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:
CA350493325
Gene: XRCC5
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.216986835G>T (hg19)
chr2:g.216122112G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.216122112G>T , CM000664.2:g.216122112G>T
GRCh38
NC_000002.11:g.216986835G>T , CM000664.1:g.216986835G>T
GRCh37
NC_000002.10:g.216695080G>T
NCBI36
NG_029780.1:g.17816G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000392132.7:c.542G>T
MANE Select
ENSP00000375977.2:p.Gly181Val
ENST00000392132.6:c.542G>T
ENSP00000375977.2:p.Gly181Val
ENST00000392133.7:c.542G>T
ENSP00000375978.3:p.Gly181Val
ENST00000460284.5:n.1084G>T
NM_021141.3:c.542G>T
NP_066964.1:p.Gly181Val
NM_021141.4:c.542G>T
MANE Select
NP_066964.1:p.Gly181Val
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