Canonical Allele Identifier: CA1583246423
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132605130C= , CM000667.2:g.132605130C= GRCh38
NC_000005.9:g.131940822C= , CM000667.1:g.131940822C= GRCh37
NC_000005.8:g.131968721C= NCBI36
NG_021151.1:g.53207C=
NG_021151.2:g.53154C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2718+131C= MANE Select ENSP00000368100.4:n.2718+131C=
ENST00000638452.2:c.2421+131C= ENSP00000492349.2:n.2421+131C=
ENST00000638504.1:n.2326+131C=
ENST00000638568.2:c.2421+131C= ENSP00000491158.2:n.2421+131C=
ENST00000639899.1:n.3237+131C=
ENST00000640655.2:c.2421+131C= ENSP00000491596.2:n.2421+131C=
ENST00000651160.1:c.*862+131C= ENSP00000498829.1:n.*862+131C=
ENST00000651723.1:c.*2801+131C= ENSP00000498237.1:n.*2801+131C=
ENST00000652016.1:c.*935+131C= ENSP00000498267.1:n.*935+131C=
ENST00000378823.7:c.2718+131C= ENSP00000368100.4:n.2718+131C=
ENST00000423956.5:c.*904+131C= ENSP00000390971.1:n.*904+131C=
ENST00000533482.5:c.*2344+131C= ENSP00000431225.1:n.*2344+131C=
NM_005732.3:c.2718+131C= NP_005723.2:n.2718+131C=
NM_005732.4:c.2718+131C= MANE Select NP_005723.2:n.2718+131C=