Canonical Allele Identifier: CA360948386

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930701T>G (hg19) ; chr5:g.132595009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595009T>G , CM000667.2:g.132595009T>G	GRCh38
NC_000005.9:g.131930701T>G , CM000667.1:g.131930701T>G	GRCh37
NC_000005.8:g.131958600T>G	NCBI36
NG_021151.1:g.43086T>G
NG_021151.2:g.43033T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1934T>G MANE Select	ENSP00000368100.4:p.Leu645Arg
ENST00000638452.2:c.1637T>G	ENSP00000492349.2:p.Leu546Arg
ENST00000638504.1:n.1480-95T>G
ENST00000638568.2:c.1637T>G	ENSP00000491158.2:p.Leu546Arg
ENST00000639899.1:n.2453T>G
ENST00000640655.2:c.1637T>G	ENSP00000491596.2:p.Leu546Arg
ENST00000651160.1:c.*16-95T>G	ENSP00000498829.1:n.*16-95T>G
ENST00000651658.1:n.2477T>G
ENST00000651723.1:c.*2017T>G	ENSP00000498237.1:n.*2017T>G
ENST00000652016.1:c.*89-95T>G	ENSP00000498267.1:n.*89-95T>G
ENST00000652485.1:c.1967T>G	ENSP00000498973.1:p.Leu656Arg
ENST00000378823.7:c.1934T>G	ENSP00000368100.4:p.Leu645Arg
ENST00000423956.5:c.*120T>G	ENSP00000390971.1:n.*120T>G
ENST00000453394.5:c.1751T>G	ENSP00000400049.1:p.Leu584Arg
ENST00000533482.5:c.*1560T>G	ENSP00000431225.1:n.*1560T>G
NM_005732.3:c.1934T>G	NP_005723.2:p.Leu645Arg
NM_005732.4:c.1934T>G MANE Select	NP_005723.2:p.Leu645Arg