Canonical Allele Identifier: CA1583237721
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs1750634170

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132588416A>C , CM000667.2:g.132588416A>C GRCh38
NC_000005.9:g.131924108A>C , CM000667.1:g.131924108A>C GRCh37
NC_000005.8:g.131952007A>C NCBI36
NG_021151.1:g.36493A>C
NG_021151.2:g.36440A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1052-271A>C MANE Select ENSP00000368100.4:n.1052-271A>C
ENST00000638452.2:c.755-271A>C ENSP00000492349.2:n.755-271A>C
ENST00000638504.1:n.738-271A>C
ENST00000638568.2:c.755-271A>C ENSP00000491158.2:n.755-271A>C
ENST00000639899.1:n.1571-271A>C
ENST00000640655.2:c.755-271A>C ENSP00000491596.2:n.755-271A>C
ENST00000651160.1:c.1052-271A>C ENSP00000498829.1:n.1052-271A>C
ENST00000651541.1:c.755-271A>C ENSP00000498795.1:n.755-271A>C
ENST00000651658.1:n.1479-271A>C
ENST00000651723.1:c.*1135-271A>C ENSP00000498237.1:n.*1135-271A>C
ENST00000652016.1:c.1052-271A>C ENSP00000498267.1:n.1052-271A>C
ENST00000652485.1:c.1052-271A>C ENSP00000498973.1:n.1052-271A>C
ENST00000378823.7:c.1052-271A>C ENSP00000368100.4:n.1052-271A>C
ENST00000423956.5:c.1052-271A>C ENSP00000390971.1:n.1052-271A>C
ENST00000453394.5:c.1052-271A>C ENSP00000400049.1:n.1052-271A>C
ENST00000487596.1:n.618-271A>C
ENST00000533482.5:c.*678-271A>C ENSP00000431225.1:n.*678-271A>C
NM_005732.3:c.1052-271A>C NP_005723.2:n.1052-271A>C
NM_005732.4:c.1052-271A>C MANE Select NP_005723.2:n.1052-271A>C