Canonical Allele Identifier: CA446362069

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1781616
• ClinVar RCV Id: RCV002415033
• MyVariant Identifiers: chr5:g.131930636C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594944C>T , CM000667.2:g.132594944C>T	GRCh38
NC_000005.9:g.131930636C>T , CM000667.1:g.131930636C>T	GRCh37
NC_000005.8:g.131958535C>T	NCBI36
NG_021151.1:g.43021C>T
NG_021151.2:g.42968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1869C>T MANE Select	ENSP00000368100.4:p.Ser623=
ENST00000638452.2:c.1572C>T	ENSP00000492349.2:p.Ser524=
ENST00000638504.1:n.1480-160C>T
ENST00000638568.2:c.1572C>T	ENSP00000491158.2:p.Ser524=
ENST00000639899.1:n.2388C>T
ENST00000640655.2:c.1572C>T	ENSP00000491596.2:p.Ser524=
ENST00000651160.1:c.*16-160C>T	ENSP00000498829.1:n.*16-160C>T
ENST00000651658.1:n.2412C>T
ENST00000651723.1:c.*1952C>T	ENSP00000498237.1:n.*1952C>T
ENST00000652016.1:c.*89-160C>T	ENSP00000498267.1:n.*89-160C>T
ENST00000652485.1:c.1902C>T	ENSP00000498973.1:p.Ser634=
ENST00000378823.7:c.1869C>T	ENSP00000368100.4:p.Ser623=
ENST00000423956.5:c.*55C>T	ENSP00000390971.1:n.*55C>T
ENST00000453394.5:c.1686C>T	ENSP00000400049.1:p.Ser562=
ENST00000533482.5:c.*1495C>T	ENSP00000431225.1:n.*1495C>T
NM_005732.3:c.1869C>T	NP_005723.2:p.Ser623=
NM_005732.4:c.1869C>T MANE Select	NP_005723.2:p.Ser623=