Canonical Allele Identifier: CA1583246385
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132605040T= , CM000667.2:g.132605040T= GRCh38
NC_000005.9:g.131940732T= , CM000667.1:g.131940732T= GRCh37
NC_000005.8:g.131968631T= NCBI36
NG_021151.1:g.53117T=
NG_021151.2:g.53064T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2718+41T= MANE Select ENSP00000368100.4:n.2718+41T=
ENST00000638452.2:c.2421+41T= ENSP00000492349.2:n.2421+41T=
ENST00000638504.1:n.2326+41T=
ENST00000638568.2:c.2421+41T= ENSP00000491158.2:n.2421+41T=
ENST00000639899.1:n.3237+41T=
ENST00000640655.2:c.2421+41T= ENSP00000491596.2:n.2421+41T=
ENST00000651160.1:c.*862+41T= ENSP00000498829.1:n.*862+41T=
ENST00000651723.1:c.*2801+41T= ENSP00000498237.1:n.*2801+41T=
ENST00000652016.1:c.*935+41T= ENSP00000498267.1:n.*935+41T=
ENST00000378823.7:c.2718+41T= ENSP00000368100.4:n.2718+41T=
ENST00000423956.5:c.*904+41T= ENSP00000390971.1:n.*904+41T=
ENST00000533482.5:c.*2344+41T= ENSP00000431225.1:n.*2344+41T=
NM_005732.3:c.2718+41T= NP_005723.2:n.2718+41T=
NM_005732.4:c.2718+41T= MANE Select NP_005723.2:n.2718+41T=