Canonical Allele Identifier: CA360955857

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939718A>G (hg19) ; chr5:g.132604026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604026A>G , CM000667.2:g.132604026A>G	GRCh38
NC_000005.9:g.131939718A>G , CM000667.1:g.131939718A>G	GRCh37
NC_000005.8:g.131967617A>G	NCBI36
NG_021151.1:g.52103A>G
NG_021151.2:g.52050A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2504A>G MANE Select	ENSP00000368100.4:p.Lys835Arg
ENST00000638452.2:c.2207A>G	ENSP00000492349.2:p.Lys736Arg
ENST00000638504.1:n.2112A>G
ENST00000638568.2:c.2207A>G	ENSP00000491158.2:p.Lys736Arg
ENST00000639899.1:n.3023A>G
ENST00000640655.2:c.2207A>G	ENSP00000491596.2:p.Lys736Arg
ENST00000651160.1:c.*648A>G	ENSP00000498829.1:n.*648A>G
ENST00000651658.1:n.3047A>G
ENST00000651723.1:c.*2587A>G	ENSP00000498237.1:n.*2587A>G
ENST00000652016.1:c.*721A>G	ENSP00000498267.1:n.*721A>G
ENST00000652485.1:c.2537A>G	ENSP00000498973.1:p.Lys846Arg
ENST00000378823.7:c.2504A>G	ENSP00000368100.4:p.Lys835Arg
ENST00000423956.5:c.*690A>G	ENSP00000390971.1:n.*690A>G
ENST00000533482.5:c.*2130A>G	ENSP00000431225.1:n.*2130A>G
NM_005732.3:c.2504A>G	NP_005723.2:p.Lys835Arg
NM_005732.4:c.2504A>G MANE Select	NP_005723.2:p.Lys835Arg