Canonical Allele Identifier: CA350637

Gene: RAD50

Linked Data

• ClinVar Variation Id: 220227
• ClinVar RCV Id: RCV000206621
• dbSNP Id: rs864622430
• MyVariant Identifiers: chr5:g.131940686A>G (hg19) ; chr5:g.132604994A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604994A>G , CM000667.2:g.132604994A>G	GRCh38
NC_000005.9:g.131940686A>G , CM000667.1:g.131940686A>G	GRCh37
NC_000005.8:g.131968585A>G	NCBI36
NG_021151.1:g.53071A>G
NG_021151.2:g.53018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2713A>G MANE Select	ENSP00000368100.4:p.Ile905Val
ENST00000638452.2:c.2416A>G	ENSP00000492349.2:p.Ile806Val
ENST00000638504.1:n.2321A>G
ENST00000638568.2:c.2416A>G	ENSP00000491158.2:p.Ile806Val
ENST00000639899.1:n.3232A>G
ENST00000640655.2:c.2416A>G	ENSP00000491596.2:p.Ile806Val
ENST00000651160.1:c.*857A>G	ENSP00000498829.1:n.*857A>G
ENST00000651723.1:c.*2796A>G	ENSP00000498237.1:n.*2796A>G
ENST00000652016.1:c.*930A>G	ENSP00000498267.1:n.*930A>G
ENST00000378823.7:c.2713A>G	ENSP00000368100.4:p.Ile905Val
ENST00000423956.5:c.*899A>G	ENSP00000390971.1:n.*899A>G
ENST00000533482.5:c.*2339A>G	ENSP00000431225.1:n.*2339A>G
NM_005732.3:c.2713A>G	NP_005723.2:p.Ile905Val
NM_005732.4:c.2713A>G MANE Select	NP_005723.2:p.Ile905Val