Canonical Allele Identifier: CA350493331
Gene: XRCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1225513162
gnomAD v2: 2-216986838-C-T
gnomAD v4: 2-216122115-C-T
MyVariant Identifiers: chr2:g.216986838C>T (hg19) chr2:g.216122115C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216122115C>T , CM000664.2:g.216122115C>T GRCh38
NC_000002.11:g.216986838C>T , CM000664.1:g.216986838C>T GRCh37
NC_000002.10:g.216695083C>T NCBI36
NG_029780.1:g.17819C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000392132.7:c.545C>T MANE Select ENSP00000375977.2:p.Pro182Leu
ENST00000392132.6:c.545C>T ENSP00000375977.2:p.Pro182Leu
ENST00000392133.7:c.545C>T ENSP00000375978.3:p.Pro182Leu
ENST00000460284.5:n.1087C>T
NM_021141.3:c.545C>T NP_066964.1:p.Pro182Leu
NM_021141.4:c.545C>T MANE Select NP_066964.1:p.Pro182Leu
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