Canonical Allele Identifier: CA446354912

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1553766
• ClinVar RCV Id: RCV002187729
• dbSNP Id: rs1750458963
• gnomAD v3: 5-132579320-T-C
• gnomAD v4: 5-132579320-T-C
• MyVariant Identifiers: chr5:g.131915012T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579320T>C , CM000667.2:g.132579320T>C	GRCh38
NC_000005.9:g.131915012T>C , CM000667.1:g.131915012T>C	GRCh37
NC_000005.8:g.131942911T>C	NCBI36
NG_021151.1:g.27397T>C
NG_021151.2:g.27344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.369T>C MANE Select	ENSP00000368100.4:p.His123=
ENST00000638452.2:c.72T>C	ENSP00000492349.2:p.His24=
ENST00000638504.1:n.442+3392T>C
ENST00000638568.2:c.72T>C	ENSP00000491158.2:p.His24=
ENST00000639899.1:n.529T>C
ENST00000640655.2:c.72T>C	ENSP00000491596.2:p.His24=
ENST00000651160.1:c.369T>C	ENSP00000498829.1:p.His123=
ENST00000651541.1:c.72T>C	ENSP00000498795.1:p.His24=
ENST00000651658.1:n.437T>C
ENST00000651723.1:c.*452T>C	ENSP00000498237.1:n.*452T>C
ENST00000652016.1:c.369T>C	ENSP00000498267.1:p.His123=
ENST00000652485.1:c.369T>C	ENSP00000498973.1:p.His123=
ENST00000378823.7:c.369T>C	ENSP00000368100.4:p.His123=
ENST00000416135.5:c.72T>C	ENSP00000389515.1:p.His24=
ENST00000423956.5:c.369T>C	ENSP00000390971.1:p.His123=
ENST00000453394.5:c.369T>C	ENSP00000400049.1:p.His123=
ENST00000533482.5:c.304T>C	ENSP00000431225.1:p.Trp102Arg
NM_005732.3:c.369T>C	NP_005723.2:p.His123=
NM_005732.4:c.369T>C MANE Select	NP_005723.2:p.His123=