Canonical Allele Identifier: CA190532

Gene: RAD50

Linked Data

• ClinVar Variation Id: 184939
• ClinVar RCV Id: RCV000164282
• dbSNP Id: rs786201804
• MyVariant Identifiers: chr5:g.131925417C>T (hg19) ; chr5:g.132589725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589725C>T , CM000667.2:g.132589725C>T	GRCh38
NC_000005.9:g.131925417C>T , CM000667.1:g.131925417C>T	GRCh37
NC_000005.8:g.131953316C>T	NCBI36
NG_021151.1:g.37802C>T
NG_021151.2:g.37749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1340C>T MANE Select	ENSP00000368100.4:p.Ser447Leu
ENST00000638452.2:c.1043C>T	ENSP00000492349.2:p.Ser348Leu
ENST00000638504.1:n.1026C>T
ENST00000638568.2:c.1043C>T	ENSP00000491158.2:p.Ser348Leu
ENST00000639899.1:n.1859C>T
ENST00000640655.2:c.1043C>T	ENSP00000491596.2:p.Ser348Leu
ENST00000651160.1:c.1340C>T	ENSP00000498829.1:p.Ser447Leu
ENST00000651541.1:c.1043C>T	ENSP00000498795.1:p.Ser348Leu
ENST00000651658.1:n.1767C>T
ENST00000651723.1:c.*1423C>T	ENSP00000498237.1:n.*1423C>T
ENST00000652016.1:c.1340C>T	ENSP00000498267.1:p.Ser447Leu
ENST00000652485.1:c.1340C>T	ENSP00000498973.1:p.Ser447Leu
ENST00000378823.7:c.1340C>T	ENSP00000368100.4:p.Ser447Leu
ENST00000423956.5:c.1340C>T	ENSP00000390971.1:p.Ser447Leu
ENST00000453394.5:c.1340C>T	ENSP00000400049.1:p.Ser447Leu
ENST00000533482.5:c.*966C>T	ENSP00000431225.1:n.*966C>T
NM_005732.3:c.1340C>T	NP_005723.2:p.Ser447Leu
NM_005732.4:c.1340C>T MANE Select	NP_005723.2:p.Ser447Leu