×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA350493339
Gene: XRCC5
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.216986842T>G (hg19)
chr2:g.216122119T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.216122119T>G , CM000664.2:g.216122119T>G
GRCh38
NC_000002.11:g.216986842T>G , CM000664.1:g.216986842T>G
GRCh37
NC_000002.10:g.216695087T>G
NCBI36
NG_029780.1:g.17823T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000392132.7:c.549T>G
MANE Select
ENSP00000375977.2:p.Phe183Leu
ENST00000392132.6:c.549T>G
ENSP00000375977.2:p.Phe183Leu
ENST00000392133.7:c.549T>G
ENSP00000375978.3:p.Phe183Leu
ENST00000460284.5:n.1091T>G
NM_021141.3:c.549T>G
NP_066964.1:p.Phe183Leu
NM_021141.4:c.549T>G
MANE Select
NP_066964.1:p.Phe183Leu
Search 100 bp 5'
Search 100 bp 3'