Canonical Allele Identifier: CA1583246360
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604989G= , CM000667.2:g.132604989G= GRCh38
NC_000005.9:g.131940681G= , CM000667.1:g.131940681G= GRCh37
NC_000005.8:g.131968580G= NCBI36
NG_021151.1:g.53066G=
NG_021151.2:g.53013G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2708G= MANE Select ENSP00000368100.4:p.Arg903=
ENST00000638452.2:c.2411G= ENSP00000492349.2:p.Arg804=
ENST00000638504.1:n.2316G=
ENST00000638568.2:c.2411G= ENSP00000491158.2:p.Arg804=
ENST00000639899.1:n.3227G=
ENST00000640655.2:c.2411G= ENSP00000491596.2:p.Arg804=
ENST00000651160.1:c.*852G= ENSP00000498829.1:n.*852G=
ENST00000651723.1:c.*2791G= ENSP00000498237.1:n.*2791G=
ENST00000652016.1:c.*925G= ENSP00000498267.1:n.*925G=
ENST00000378823.7:c.2708G= ENSP00000368100.4:p.Arg903=
ENST00000423956.5:c.*894G= ENSP00000390971.1:n.*894G=
ENST00000533482.5:c.*2334G= ENSP00000431225.1:n.*2334G=
NM_005732.3:c.2708G= NP_005723.2:p.Arg903=
NM_005732.4:c.2708G= MANE Select NP_005723.2:p.Arg903=