Canonical Allele Identifier: CA658657524

Gene: RAD50

Linked Data

• ClinVar Variation Id: 482112
• ClinVar RCV Id: RCV000565912
• dbSNP Id: rs1554099203
• MyVariant Identifiers: chr5:g.131940694A>T (hg19) ; chr5:g.132605002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132605002A>T , CM000667.2:g.132605002A>T	GRCh38
NC_000005.9:g.131940694A>T , CM000667.1:g.131940694A>T	GRCh37
NC_000005.8:g.131968593A>T	NCBI36
NG_021151.1:g.53079A>T
NG_021151.2:g.53026A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2718+3A>T MANE Select	ENSP00000368100.4:n.2718+3A>T
ENST00000638452.2:c.2421+3A>T	ENSP00000492349.2:n.2421+3A>T
ENST00000638504.1:n.2326+3A>T
ENST00000638568.2:c.2421+3A>T	ENSP00000491158.2:n.2421+3A>T
ENST00000639899.1:n.3237+3A>T
ENST00000640655.2:c.2421+3A>T	ENSP00000491596.2:n.2421+3A>T
ENST00000651160.1:c.*862+3A>T	ENSP00000498829.1:n.*862+3A>T
ENST00000651723.1:c.*2801+3A>T	ENSP00000498237.1:n.*2801+3A>T
ENST00000652016.1:c.*935+3A>T	ENSP00000498267.1:n.*935+3A>T
ENST00000378823.7:c.2718+3A>T	ENSP00000368100.4:n.2718+3A>T
ENST00000423956.5:c.*904+3A>T	ENSP00000390971.1:n.*904+3A>T
ENST00000533482.5:c.*2344+3A>T	ENSP00000431225.1:n.*2344+3A>T
NM_005732.3:c.2718+3A>T	NP_005723.2:n.2718+3A>T
NM_005732.4:c.2718+3A>T MANE Select	NP_005723.2:n.2718+3A>T