Canonical Allele Identifier: CA360956979

Gene: RAD50

Linked Data

• ClinVar Variation Id: 482135
• ClinVar RCV Id: RCV000573484
• dbSNP Id: rs1554099201
• MyVariant Identifiers: chr5:g.131940681G>A (hg19) ; chr5:g.132604989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604989G>A , CM000667.2:g.132604989G>A	GRCh38
NC_000005.9:g.131940681G>A , CM000667.1:g.131940681G>A	GRCh37
NC_000005.8:g.131968580G>A	NCBI36
NG_021151.1:g.53066G>A
NG_021151.2:g.53013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2708G>A MANE Select	ENSP00000368100.4:p.Arg903Lys
ENST00000638452.2:c.2411G>A	ENSP00000492349.2:p.Arg804Lys
ENST00000638504.1:n.2316G>A
ENST00000638568.2:c.2411G>A	ENSP00000491158.2:p.Arg804Lys
ENST00000639899.1:n.3227G>A
ENST00000640655.2:c.2411G>A	ENSP00000491596.2:p.Arg804Lys
ENST00000651160.1:c.*852G>A	ENSP00000498829.1:n.*852G>A
ENST00000651723.1:c.*2791G>A	ENSP00000498237.1:n.*2791G>A
ENST00000652016.1:c.*925G>A	ENSP00000498267.1:n.*925G>A
ENST00000378823.7:c.2708G>A	ENSP00000368100.4:p.Arg903Lys
ENST00000423956.5:c.*894G>A	ENSP00000390971.1:n.*894G>A
ENST00000533482.5:c.*2334G>A	ENSP00000431225.1:n.*2334G>A
NM_005732.3:c.2708G>A	NP_005723.2:p.Arg903Lys
NM_005732.4:c.2708G>A MANE Select	NP_005723.2:p.Arg903Lys