Canonical Allele Identifier: CA360936555

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1059150
• ClinVar RCV Id: RCV001368377
• dbSNP Id: rs2149838018
• MyVariant Identifiers: chr5:g.131915691A>G (hg19) ; chr5:g.132579999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579999A>G , CM000667.2:g.132579999A>G	GRCh38
NC_000005.9:g.131915691A>G , CM000667.1:g.131915691A>G	GRCh37
NC_000005.8:g.131943590A>G	NCBI36
NG_021151.1:g.28076A>G
NG_021151.2:g.28023A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.689A>G MANE Select	ENSP00000368100.4:p.Lys230Arg
ENST00000638452.2:c.392A>G	ENSP00000492349.2:p.Lys131Arg
ENST00000638504.1:n.442+4071A>G
ENST00000638568.2:c.392A>G	ENSP00000491158.2:p.Lys131Arg
ENST00000639899.1:n.1208A>G
ENST00000640655.2:c.392A>G	ENSP00000491596.2:p.Lys131Arg
ENST00000651160.1:c.689A>G	ENSP00000498829.1:p.Lys230Arg
ENST00000651541.1:c.392A>G	ENSP00000498795.1:p.Lys131Arg
ENST00000651658.1:n.1116A>G
ENST00000651723.1:c.*772A>G	ENSP00000498237.1:n.*772A>G
ENST00000652016.1:c.689A>G	ENSP00000498267.1:p.Lys230Arg
ENST00000652485.1:c.689A>G	ENSP00000498973.1:p.Lys230Arg
ENST00000378823.7:c.689A>G	ENSP00000368100.4:p.Lys230Arg
ENST00000423956.5:c.689A>G	ENSP00000390971.1:p.Lys230Arg
ENST00000453394.5:c.689A>G	ENSP00000400049.1:p.Lys230Arg
ENST00000487596.1:n.255A>G
ENST00000533482.5:c.*315A>G	ENSP00000431225.1:n.*315A>G
NM_005732.3:c.689A>G	NP_005723.2:p.Lys230Arg
NM_005732.4:c.689A>G MANE Select	NP_005723.2:p.Lys230Arg