Canonical Allele Identifier: CA360956658

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2979085
• ClinVar RCV Id: RCV003831715
• dbSNP Id: rs2149847793
• MyVariant Identifiers: chr5:g.131940606C>A (hg19) ; chr5:g.132604914C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604914C>A , CM000667.2:g.132604914C>A	GRCh38
NC_000005.9:g.131940606C>A , CM000667.1:g.131940606C>A	GRCh37
NC_000005.8:g.131968505C>A	NCBI36
NG_021151.1:g.52991C>A
NG_021151.2:g.52938C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2633C>A MANE Select	ENSP00000368100.4:p.Ser878Tyr
ENST00000638452.2:c.2336C>A	ENSP00000492349.2:p.Ser779Tyr
ENST00000638504.1:n.2241C>A
ENST00000638568.2:c.2336C>A	ENSP00000491158.2:p.Ser779Tyr
ENST00000639899.1:n.3152C>A
ENST00000640655.2:c.2336C>A	ENSP00000491596.2:p.Ser779Tyr
ENST00000651160.1:c.*777C>A	ENSP00000498829.1:n.*777C>A
ENST00000651723.1:c.*2716C>A	ENSP00000498237.1:n.*2716C>A
ENST00000652016.1:c.*850C>A	ENSP00000498267.1:n.*850C>A
ENST00000652485.1:c.2666C>A	ENSP00000498973.1:p.Ser889Tyr
ENST00000378823.7:c.2633C>A	ENSP00000368100.4:p.Ser878Tyr
ENST00000423956.5:c.*819C>A	ENSP00000390971.1:n.*819C>A
ENST00000533482.5:c.*2259C>A	ENSP00000431225.1:n.*2259C>A
NM_005732.3:c.2633C>A	NP_005723.2:p.Ser878Tyr
NM_005732.4:c.2633C>A MANE Select	NP_005723.2:p.Ser878Tyr