Canonical Allele Identifier: CA360948611

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1783354
• ClinVar RCV Id: RCV002421663
• MyVariant Identifiers: chr5:g.131930725C>T (hg19) ; chr5:g.132595033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595033C>T , CM000667.2:g.132595033C>T	GRCh38
NC_000005.9:g.131930725C>T , CM000667.1:g.131930725C>T	GRCh37
NC_000005.8:g.131958624C>T	NCBI36
NG_021151.1:g.43110C>T
NG_021151.2:g.43057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1958C>T MANE Select	ENSP00000368100.4:p.Ser653Leu
ENST00000638452.2:c.1661C>T	ENSP00000492349.2:p.Ser554Leu
ENST00000638504.1:n.1480-71C>T
ENST00000638568.2:c.1661C>T	ENSP00000491158.2:p.Ser554Leu
ENST00000639899.1:n.2477C>T
ENST00000640655.2:c.1661C>T	ENSP00000491596.2:p.Ser554Leu
ENST00000651160.1:c.*16-71C>T	ENSP00000498829.1:n.*16-71C>T
ENST00000651658.1:n.2501C>T
ENST00000651723.1:c.*2041C>T	ENSP00000498237.1:n.*2041C>T
ENST00000652016.1:c.*89-71C>T	ENSP00000498267.1:n.*89-71C>T
ENST00000652485.1:c.1991C>T	ENSP00000498973.1:p.Ser664Leu
ENST00000378823.7:c.1958C>T	ENSP00000368100.4:p.Ser653Leu
ENST00000423956.5:c.*144C>T	ENSP00000390971.1:n.*144C>T
ENST00000453394.5:c.1775C>T	ENSP00000400049.1:p.Ser592Leu
ENST00000533482.5:c.*1584C>T	ENSP00000431225.1:n.*1584C>T
NM_005732.3:c.1958C>T	NP_005723.2:p.Ser653Leu
NM_005732.4:c.1958C>T MANE Select	NP_005723.2:p.Ser653Leu