Canonical Allele Identifier: CA915942548

Gene: RAD50

Linked Data

• ClinVar Variation Id: 705497
• ClinVar RCV Id: RCV000875802
• dbSNP Id: rs200726633

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132605008A>T , CM000667.2:g.132605008A>T	GRCh38
NC_000005.9:g.131940700A>T , CM000667.1:g.131940700A>T	GRCh37
NC_000005.8:g.131968599A>T	NCBI36
NG_021151.1:g.53085A>T
NG_021151.2:g.53032A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2718+9A>T MANE Select	ENSP00000368100.4:n.2718+9A>T
ENST00000638452.2:c.2421+9A>T	ENSP00000492349.2:n.2421+9A>T
ENST00000638504.1:n.2326+9A>T
ENST00000638568.2:c.2421+9A>T	ENSP00000491158.2:n.2421+9A>T
ENST00000639899.1:n.3237+9A>T
ENST00000640655.2:c.2421+9A>T	ENSP00000491596.2:n.2421+9A>T
ENST00000651160.1:c.*862+9A>T	ENSP00000498829.1:n.*862+9A>T
ENST00000651723.1:c.*2801+9A>T	ENSP00000498237.1:n.*2801+9A>T
ENST00000652016.1:c.*935+9A>T	ENSP00000498267.1:n.*935+9A>T
ENST00000378823.7:c.2718+9A>T	ENSP00000368100.4:n.2718+9A>T
ENST00000423956.5:c.*904+9A>T	ENSP00000390971.1:n.*904+9A>T
ENST00000533482.5:c.*2344+9A>T	ENSP00000431225.1:n.*2344+9A>T
NM_005732.3:c.2718+9A>T	NP_005723.2:n.2718+9A>T
NM_005732.4:c.2718+9A>T MANE Select	NP_005723.2:n.2718+9A>T