Canonical Allele Identifier: CA360955839

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2821562
• ClinVar RCV Id: RCV003747119
• MyVariant Identifiers: chr5:g.131939717A>T (hg19) ; chr5:g.132604025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604025A>T , CM000667.2:g.132604025A>T	GRCh38
NC_000005.9:g.131939717A>T , CM000667.1:g.131939717A>T	GRCh37
NC_000005.8:g.131967616A>T	NCBI36
NG_021151.1:g.52102A>T
NG_021151.2:g.52049A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2503A>T MANE Select	ENSP00000368100.4:p.Lys835Ter
ENST00000638452.2:c.2206A>T	ENSP00000492349.2:p.Lys736Ter
ENST00000638504.1:n.2111A>T
ENST00000638568.2:c.2206A>T	ENSP00000491158.2:p.Lys736Ter
ENST00000639899.1:n.3022A>T
ENST00000640655.2:c.2206A>T	ENSP00000491596.2:p.Lys736Ter
ENST00000651160.1:c.*647A>T	ENSP00000498829.1:n.*647A>T
ENST00000651658.1:n.3046A>T
ENST00000651723.1:c.*2586A>T	ENSP00000498237.1:n.*2586A>T
ENST00000652016.1:c.*720A>T	ENSP00000498267.1:n.*720A>T
ENST00000652485.1:c.2536A>T	ENSP00000498973.1:p.Lys846Ter
ENST00000378823.7:c.2503A>T	ENSP00000368100.4:p.Lys835Ter
ENST00000423956.5:c.*689A>T	ENSP00000390971.1:n.*689A>T
ENST00000533482.5:c.*2129A>T	ENSP00000431225.1:n.*2129A>T
NM_005732.3:c.2503A>T	NP_005723.2:p.Lys835Ter
NM_005732.4:c.2503A>T MANE Select	NP_005723.2:p.Lys835Ter