Canonical Allele Identifier: CA333885
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 185548
dbSNP Id: rs367925756

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132595650G>A , CM000667.2:g.132595650G>A GRCh38
NC_000005.9:g.131931342G>A , CM000667.1:g.131931342G>A GRCh37
NC_000005.8:g.131959241G>A NCBI36
NG_021151.1:g.43727G>A
NG_021151.2:g.43674G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2047G>A MANE Select ENSP00000368100.4:p.Val683Ile
ENST00000638452.2:c.1750G>A ENSP00000492349.2:p.Val584Ile
ENST00000638504.1:n.1655G>A
ENST00000638568.2:c.1750G>A ENSP00000491158.2:p.Val584Ile
ENST00000639899.1:n.2566G>A
ENST00000640655.2:c.1750G>A ENSP00000491596.2:p.Val584Ile
ENST00000651160.1:c.*191G>A ENSP00000498829.1:n.*191G>A
ENST00000651658.1:n.2590G>A
ENST00000651723.1:c.*2130G>A ENSP00000498237.1:n.*2130G>A
ENST00000652016.1:c.*264G>A ENSP00000498267.1:n.*264G>A
ENST00000652485.1:c.2080G>A ENSP00000498973.1:p.Val694Ile
ENST00000378823.7:c.2047G>A ENSP00000368100.4:p.Val683Ile
ENST00000423956.5:c.*233G>A ENSP00000390971.1:n.*233G>A
ENST00000453394.5:c.1864G>A ENSP00000400049.1:p.Val622Ile
ENST00000496204.1:n.130G>A
ENST00000533482.5:c.*1673G>A ENSP00000431225.1:n.*1673G>A
NM_005732.3:c.2047G>A NP_005723.2:p.Val683Ile
NM_005732.4:c.2047G>A MANE Select NP_005723.2:p.Val683Ile