Canonical Allele Identifier: CA360956888

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1054120
• ClinVar RCV Id: RCV001362568
• dbSNP Id: rs2149847852
• MyVariant Identifiers: chr5:g.131940660C>G (hg19) ; chr5:g.132604968C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604968C>G , CM000667.2:g.132604968C>G	GRCh38
NC_000005.9:g.131940660C>G , CM000667.1:g.131940660C>G	GRCh37
NC_000005.8:g.131968559C>G	NCBI36
NG_021151.1:g.53045C>G
NG_021151.2:g.52992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2687C>G MANE Select	ENSP00000368100.4:p.Thr896Ser
ENST00000638452.2:c.2390C>G	ENSP00000492349.2:p.Thr797Ser
ENST00000638504.1:n.2295C>G
ENST00000638568.2:c.2390C>G	ENSP00000491158.2:p.Thr797Ser
ENST00000639899.1:n.3206C>G
ENST00000640655.2:c.2390C>G	ENSP00000491596.2:p.Thr797Ser
ENST00000651160.1:c.*831C>G	ENSP00000498829.1:n.*831C>G
ENST00000651723.1:c.*2770C>G	ENSP00000498237.1:n.*2770C>G
ENST00000652016.1:c.*904C>G	ENSP00000498267.1:n.*904C>G
ENST00000378823.7:c.2687C>G	ENSP00000368100.4:p.Thr896Ser
ENST00000423956.5:c.*873C>G	ENSP00000390971.1:n.*873C>G
ENST00000533482.5:c.*2313C>G	ENSP00000431225.1:n.*2313C>G
NM_005732.3:c.2687C>G	NP_005723.2:p.Thr896Ser
NM_005732.4:c.2687C>G MANE Select	NP_005723.2:p.Thr896Ser