Canonical Allele Identifier: CA562772506
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs1441935790
gnomAD v2: 5-131892624-C-T
gnomAD v3: 5-132556932-C-T
gnomAD v4: 5-132556932-C-T
MyVariant Identifiers: chr5:g.131892624C>T (hg19) chr5:g.132556932C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132556932C>T , CM000667.2:g.132556932C>T GRCh38
NC_000005.9:g.131892624C>T , CM000667.1:g.131892624C>T GRCh37
NC_000005.8:g.131920523C>T NCBI36
NG_021151.1:g.5009C>T
NG_021151.2:g.4956C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000638452.2:c.-168-2352C>T ENSP00000492349.2:n.-168-2352C>T
ENST00000638504.1:n.207-2352C>T
ENST00000638568.2:c.-169+459C>T ENSP00000491158.2:n.-169+459C>T
ENST00000639899.1:n.290-2352C>T
ENST00000640655.2:c.-168-2352C>T ENSP00000491596.2:n.-168-2352C>T
ENST00000651541.1:c.-246C>T ENSP00000498795.1:n.-246C>T
ENST00000416135.5:c.-169+459C>T ENSP00000389515.1:n.-169+459C>T
NM_005732.3:c.-393C>T NP_005723.2:n.-393C>T
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