Canonical Allele Identifier: CA360951603

Gene: RAD50

Linked Data

• ClinVar Variation Id: 823361
• ClinVar RCV Id: RCV001019541
• dbSNP Id: rs1580974498
• gnomAD v4: 5-132557419-C-A
• MyVariant Identifiers: chr5:g.131893111C>A (hg19) ; chr5:g.132557419C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557419C>A , CM000667.2:g.132557419C>A	GRCh38
NC_000005.9:g.131893111C>A , CM000667.1:g.131893111C>A	GRCh37
NC_000005.8:g.131921010C>A	NCBI36
NG_021151.1:g.5496C>A
NG_021151.2:g.5443C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.95C>A MANE Select	ENSP00000368100.4:p.Thr32Lys
ENST00000638452.2:c.-168-1865C>A	ENSP00000492349.2:n.-168-1865C>A
ENST00000638504.1:n.207-1865C>A
ENST00000638568.2:c.-169+946C>A	ENSP00000491158.2:n.-169+946C>A
ENST00000639899.1:n.290-1865C>A
ENST00000640655.2:c.-168-1865C>A	ENSP00000491596.2:n.-168-1865C>A
ENST00000651160.1:c.95C>A	ENSP00000498829.1:p.Thr32Lys
ENST00000651541.1:c.-169+410C>A	ENSP00000498795.1:n.-169+410C>A
ENST00000651658.1:n.163C>A
ENST00000651723.1:c.95C>A	ENSP00000498237.1:p.Thr32Lys
ENST00000652016.1:c.95C>A	ENSP00000498267.1:p.Thr32Lys
ENST00000652485.1:c.95C>A	ENSP00000498973.1:p.Thr32Lys
ENST00000378823.7:c.95C>A	ENSP00000368100.4:p.Thr32Lys
ENST00000416135.5:c.-169+946C>A	ENSP00000389515.1:n.-169+946C>A
ENST00000423956.5:c.95C>A	ENSP00000390971.1:p.Thr32Lys
ENST00000453394.5:c.95C>A	ENSP00000400049.1:p.Thr32Lys
ENST00000533482.5:c.95C>A	ENSP00000431225.1:p.Thr32Lys
NM_005732.3:c.95C>A	NP_005723.2:p.Thr32Lys
NM_005732.4:c.95C>A MANE Select	NP_005723.2:p.Thr32Lys