Canonical Allele Identifier: CA127258775

Gene: RAD50

Linked Data

• ClinVar Variation Id: 821640
• ClinVar RCV Id: RCV001016241
• dbSNP Id: rs767107242
• MyVariant Identifiers: chr5:g.131940680A>G (hg19) ; chr5:g.132604988A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604988A>G , CM000667.2:g.132604988A>G	GRCh38
NC_000005.9:g.131940680A>G , CM000667.1:g.131940680A>G	GRCh37
NC_000005.8:g.131968579A>G	NCBI36
NG_021151.1:g.53065A>G
NG_021151.2:g.53012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2707A>G MANE Select	ENSP00000368100.4:p.Arg903Gly
ENST00000638452.2:c.2410A>G	ENSP00000492349.2:p.Arg804Gly
ENST00000638504.1:n.2315A>G
ENST00000638568.2:c.2410A>G	ENSP00000491158.2:p.Arg804Gly
ENST00000639899.1:n.3226A>G
ENST00000640655.2:c.2410A>G	ENSP00000491596.2:p.Arg804Gly
ENST00000651160.1:c.*851A>G	ENSP00000498829.1:n.*851A>G
ENST00000651723.1:c.*2790A>G	ENSP00000498237.1:n.*2790A>G
ENST00000652016.1:c.*924A>G	ENSP00000498267.1:n.*924A>G
ENST00000378823.7:c.2707A>G	ENSP00000368100.4:p.Arg903Gly
ENST00000423956.5:c.*893A>G	ENSP00000390971.1:n.*893A>G
ENST00000533482.5:c.*2333A>G	ENSP00000431225.1:n.*2333A>G
NM_005732.3:c.2707A>G	NP_005723.2:p.Arg903Gly
NM_005732.4:c.2707A>G MANE Select	NP_005723.2:p.Arg903Gly