Canonical Allele Identifier: CA3405470

Gene: RAD50

Linked Data

• ClinVar Variation Id: 968303
• ClinVar RCV Id: RCV001243407
• dbSNP Id: rs547370566
• ExAC: 5:131944846 G / T
• gnomAD v2: 5-131944846-G-T
• gnomAD v3: 5-132609154-G-T
• gnomAD v4: 5-132609154-G-T
• MyVariant Identifiers: chr5:g.131944846G>T (hg19) ; chr5:g.132609154G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609154G>T , CM000667.2:g.132609154G>T	GRCh38
NC_000005.9:g.131944846G>T , CM000667.1:g.131944846G>T	GRCh37
NC_000005.8:g.131972745G>T	NCBI36
NG_021151.1:g.57231G>T
NG_021151.2:g.57178G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2867G>T MANE Select	ENSP00000368100.4:p.Gly956Val
ENST00000638452.2:c.2570G>T	ENSP00000492349.2:p.Gly857Val
ENST00000638504.1:n.2475G>T
ENST00000638568.2:c.2570G>T	ENSP00000491158.2:p.Gly857Val
ENST00000639899.1:n.3386G>T
ENST00000640655.2:c.2570G>T	ENSP00000491596.2:p.Gly857Val
ENST00000651160.1:c.*1011G>T	ENSP00000498829.1:n.*1011G>T
ENST00000651723.1:c.*2950G>T	ENSP00000498237.1:n.*2950G>T
ENST00000378823.7:c.2867G>T	ENSP00000368100.4:p.Gly956Val
ENST00000423956.5:c.*1053G>T	ENSP00000390971.1:n.*1053G>T
ENST00000533482.5:c.*2493G>T	ENSP00000431225.1:n.*2493G>T
NM_005732.3:c.2867G>T	NP_005723.2:p.Gly956Val
NM_005732.4:c.2867G>T MANE Select	NP_005723.2:p.Gly956Val