Canonical Allele Identifier: CA360931413

Gene: RAD50

Linked Data

• dbSNP Id: rs2149836471
• MyVariant Identifiers: chr5:g.131911601G>A (hg19) ; chr5:g.132575909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575909G>A , CM000667.2:g.132575909G>A	GRCh38
NC_000005.9:g.131911601G>A , CM000667.1:g.131911601G>A	GRCh37
NC_000005.8:g.131939500G>A	NCBI36
NG_021151.1:g.23986G>A
NG_021151.2:g.23933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.346G>A MANE Select	ENSP00000368100.4:p.Gly116Arg
ENST00000638452.2:c.49G>A	ENSP00000492349.2:p.Gly17Arg
ENST00000638504.1:n.423G>A
ENST00000638568.2:c.49G>A	ENSP00000491158.2:p.Gly17Arg
ENST00000639899.1:n.506G>A
ENST00000640655.2:c.49G>A	ENSP00000491596.2:p.Gly17Arg
ENST00000651160.1:c.346G>A	ENSP00000498829.1:p.Gly116Arg
ENST00000651541.1:c.49G>A	ENSP00000498795.1:p.Gly17Arg
ENST00000651658.1:n.414G>A
ENST00000651723.1:c.*448+46G>A	ENSP00000498237.1:n.*448+46G>A
ENST00000652016.1:c.346G>A	ENSP00000498267.1:p.Gly116Arg
ENST00000652485.1:c.346G>A	ENSP00000498973.1:p.Gly116Arg
ENST00000378823.7:c.346G>A	ENSP00000368100.4:p.Gly116Arg
ENST00000416135.5:c.49G>A	ENSP00000389515.1:p.Gly17Arg
ENST00000423956.5:c.346G>A	ENSP00000390971.1:p.Gly116Arg
ENST00000453394.5:c.346G>A	ENSP00000400049.1:p.Gly116Arg
ENST00000533482.5:c.300+46G>A	ENSP00000431225.1:n.300+46G>A
NM_005732.3:c.346G>A	NP_005723.2:p.Gly116Arg
NM_005732.4:c.346G>A MANE Select	NP_005723.2:p.Gly116Arg